GJB1 ELISA Kit for Human(Homo sapiens) | EIAab.comGJB1 ELISA Kit for Human(Homo sapiens)

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Index > Protein center > GJB1(Gene name) > Human

GJB1 (Gene name),

Gap junction beta-1 protein (Protein name ), CXB1_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

GJB1(CX32);

Protein name:

Gap junction beta-1 protein;

Alternative:

GAP junction 28 kDa liver protein;Connexin-32(Cx32);

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

A connexon is composed of a hexamer of connexins. Interacts with CNST.

Function:

One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.

Subcellular Location:

Cell membrane Multi-pass membrane protein Cell junction gap junction

Protein Attributes:

Sequence length:

283

Sequence:

50:

100:

150:

200:

250:

283:

LLSEQDGSLK | DILRRSPGTG | AGLAEKSDRC | SAC

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

MIM:

145900

KEGG:

hsa:2705

STRING:

9606.ENSP00000354900

Pfam:

PF00029

SMR:

P08034

String:

P08034

UniGene:

Hs.333303

Uniprot:

P08034

FOR

ELISA Kit for Human Gap junction beta-1 protein

CLIA Kit for Human Gap junction beta-1 protein

Polyclonal Antibody for Human Gap junction beta-1 protein

Monoclonal Antibody for Human Gap junction beta-1 protein

Protein for Human Gap junction beta-1 protein

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Linearity

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

References

1.

"Cloning and characterization of human and rat liver cDNAs coding for a gap junction protein."
Kumar N.M. , Gilula N.B.
J. Cell Biol.103:767-776(1986) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
tissue: Liver.
2.

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
tissue: Subthalamic nucleus.
3.

"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N. , Chen X. , Rolfs A. , Halleck A. , Hines L. , Eisenstein S. , Koundinya M. , Raphael J. , Moreira D. , Kelley T. , LaBaer J. , Lin Y. , Phelan M. , Farmer A.
Submitted (2004-10) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
4.

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , more...
Submitted (2005-09) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
5.

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
tissue: Liver.
tissue: Placenta.
tissue: Skin.
6.

Neuhaus I.M. , Bone L. , Wang S. , Ionasescu V. , Werner R.
Submitted (1995-09) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-17
7.

"Topology of the 32-kd liver gap junction protein determined by site-directed antibody localizations."
Milks L.C. , Kumar N.M. , Houghten R. , Unwin N. , Gilula N.B.
EMBO J.7:2967-2975(1988) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: TOPOLOGY
8.

"A Calpha model for the transmembrane alpha helices of gap junction intercellular channels."
Fleishman S.J. , Unger V.M. , Yeager M. , Ben-Tal N.
Mol. Cell15:879-888(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: 3D-STRUCTURE MODELING OF 19-209;STRUCTURE BY ELECTRON CRYOMICROSCOPY (20 ANGSTROMS)
9.

"Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies."
Nelis E. , Haites N. , van Broeckhoven C.
Hum. Mutat.13:11-28(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON CMTX1 VARIANTS
10.

"Connexin mutations in X-linked Charcot-Marie-Tooth disease."
Bergoffen J. , Schere S.S. , Wang S. , Oronzi Scott M. , Bone L.J. , Paul D.L. , Chen K. , Lensch M.W. , Chance P.F. , Fischbeck K.H.
Science262:2039-2042(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMTX1 SER-12; MET-139; TRP-142; ARG-156; SER-172 AND LYS-186
11.

"Mutational studies in X-linked Charcot-Marie-Tooth disease (CMTX)."
Cherryson A.K. , Yeung L. , Kennerson M.L. , Nicholson G.A.
Am. J. Hum. Genet.55:A216-A216(1994)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMTX1 MET-35; ALA-158; THR-182 AND 111-HIS--HIS-116 DEL
12.

"Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)."
Fairweather N. , Bell C. , Cochrane S. , Chelly J. , Wang S. , Mostacciuolo M.L. , Monaco A.P. , Haites N.E.
Hum. Mol. Genet.3:29-34(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMTX1 GLN-15; PHE-60; ILE-63; LEU-143 DEL; LYS-208 AND TRP-215
13.

"Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy."
Ionasescu V. , Searby C. , Ionasescu R.
Hum. Mol. Genet.3:355-358(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMTX1 GLY-102 AND TRP-142
14.

"X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32."
Orth U. , Fairweather N. , Exler M.-C. , Schwinger E. , Gal A.
Hum. Mol. Genet.3:1699-1700(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMTX1 MET-38
15.

"New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease."
Bone L.J. , Dahl N. , Lensch M.W. , Chance P.F. , Kelly T. , le Guern E. , Magi S. , Parry G. , Shapiro H. , Wang S. , Fischbeck K.H.
Neurology45:1863-1866(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMTX1 LEU-13; ASN-30; CYS-65; MET-95; ARG-133 AND ARG-156
16.

"Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy."
Ionasescu V. , Ionasescu R. , Searby C.
Am. J. Med. Genet.63:486-491(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMTX1 SER-3; GLN-22; SER-77; ARG-80; GLY-102; TRP-142 AND TRP-164
17.

"X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene."
Ressot C. , Latour P. , Blanquet-Grossard F. , Sturtz F. , Duthel S. , Battin J. , Corbillon E. , Ollagnon E. , Serville F. , Vandenberghe A. , Dautigny A. , Pham-Dinh D.
Hum. Genet.98:172-175(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMTX1 GLY-22; PRO-22 AND TRP-215
18.

"Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease."
Tan C.C. , Ainsworth P.J. , Hahn A.F. , Macleod P.M.
Hum. Mutat.7:167-171(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMTX1 THR-34; GLN-75 AND TRP-107
19.

"Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy."
Schiavon F. , Fracasso C. , Mostacciuolo M.L.
Hum. Mutat.8:83-84(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMTX1 CYS-7
20.

"Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families."
Yoshimura T. , Ohnishi A. , Yamamoto T. , Fukushima Y. , Kitani M. , Kobayashi T.
Hum. Mutat.8:270-272(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMTX1 LEU-26 AND SER-53
21.

"A point mutation in codon 3 of connexin-32 is associated with X-linked Charcot-Marie-Tooth neuropathy."
Gupta S. , Benstead T. , Neumann P. , Guernsey D.
Hum. Mutat.8:375-376(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMTX1 SER-3
22.

"Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease."
Oterino A. , Monton F.I. , Cabrera V.M. , Pinto F. , Gonzalez A. , Lavilla N.R.
J. Med. Genet.33:413-415(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMTX1 TRP-164
23.

"Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13."
Timmerman V. , de Jonghe P. , Spoelders P. , Simokovic S. , Loefgren A. , Nelis E. , Vance J. , Martin J.-J. , van Broeckhoven C.
Neurology46:1311-1318(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT-X TYR-49
24.

"New mutations in the X-linked form of Charcot-Marie-Tooth disease."
Latour P. , Fabreguette A. , Ressot C. , Blanquet-Grossard F. , Antoine J.-C. , Calvas P. , Chapon F. , Corbillon E. , Ollagnon E. , Sturtz F. , Boucherat M. , Chazot G. , Dautigny A. , Pham-Dinh D. , Vandenberghe A.
Eur. Neurol.37:38-42(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMT-X VAL-34; HIS-90; TRP-107; TRP-142; PHE-156 AND LYS-186
25.

"Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)."
Janssen E.A.M. , Kemp S. , Hensels G.W. , Sie O.G. , de Die-Smulders C.E.M. , Hoogendijk J.E. , de Visser M. , Bolhuis P.A.
Hum. Genet.99:501-505(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMT-X TRP-15; ILE-63; CYS-65; SER-87; PRO-89; MET-139 AND ARG-199
26.

"Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies."
Bort S. , Nelis E. , Timmerman V. , Sevilla T. , Cruz-Martinez A. , Martinez F. , Millan J.M. , Arpa J. , Vilchez J.J. , Prieto F. , van Broeckhoven C. , Palau F.
Hum. Genet.99:746-754(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMT-X ALA-23; SER-64; SER-87; TRP-164; GLN-164; SER-183; HIS-183; CYS-183 AND TRP-215
27.

"Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance."
Silander K. , Meretoja P. , Pihko H. , Juvonen V. , Issakainen J. , Aula P. , Savontaus M.L.
Hum. Genet.100:391-397(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMT-X GLN-22; GLN-75; TRP-75; TRY-107; MET-139 AND VAL-194
28.

"Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations."
Nelis E. , Simokovic S. , Timmerman V. , Loefgren A. , Backhovens H. , de Jonghe P. , Martin J.-J. , Van Broeckhoven C.
Hum. Mutat.9:47-52(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMT-X PHE-25; LEU-26; ALA-87 AND HIS-238
29.

"Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families."
Rouger H. , Leguern E. , Birouk N. , Gouider R. , Tardieu S. , Plassart E. , Gugenheim M. , Vallat J.-M. , Louboutin J.-P. , Bouche P. , Agid Y. , Brice A.
Hum. Mutat.10:443-452(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS THR-34; ILE-84; MET-95; TRP-107; ARG-133; LEU-141; ALA-158; ASN-203; SER-205 AND 213-ILE-ILE-214 DELINS LEU
30.

"Connexin32 and X-linked Charcot-Marie-Tooth disease."
Bone L.J. , Deschenes S.M. , Balice-Gordon R.J. , Fischbeck K.H. , Scherer S.S.
Neurobiol. Dis.4:221-230(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMT-X ARG-3; SER-3; CYS-7; SER-12; LEU-13; MET-13; LYS-14; GLN-15; TRP-15; PRO-16; SER-20; ASP-21; GLN-22; PRO-22; GLY-22; ALA-23; PHE-25; LEU-26; ASN-28; THR-28; LEU-29; ASN-30; THR-34; VAL-34; MET-35; MET-38; VAL-40; LYS-41; LEU-44; TYR-49; SER-53; PHE-56; PHE-60; ILE-63; SER-64; CYS-65; GLN-75; PRO-75; TRP-75; SER-77; ARG-80; CYS-85; PHE-85; ALA-86; ASN-86; SER-86; ALA-87; LEU-87; SER-87; PRO-89; HIS-90; VAL-93; GLN-94; TYR-94; MET-95; TYR-100; GLY-102; GLU-103; TRP-107; HIS-111--116-HIS DEL; ASN-124; PRO-128; ARG-133; MET-139; TRP-142; GLU-142; LEU-143 DEL; ARG-156; PHE-156; CYS-157; ALA-158; ARG-158; HIS-160; PRO-161; TRP-164; GLN-164; SER-172; LEU-172; TYR-178; ARG-179; LEU-180; MET-181; THR-182; CYS-183; SER-183; HIS-183; THR-185 DEL; LYS-186; GLU-187; GLY-189; ILE-189; 191-THR--PHE-193 DEL; CYS-193; PHE-198; ARG-199; ARG-201; VAL-204; SER-205; LYS-208; TRP-215; CYS-219; HIS-219; GLY-220; CYS-230; LEU-230; CYS-235 AND HIS-238
31.

"Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population."
Latour P. , Levy N. , Paret M. , Chapon F. , Chazot G. , Clavelou P. , Couratier P. , Dumas R. , Ollagnon E. , Pouget J. , Setiey A. , Vallat J.-M. , Boucherat M. , Fontes M. , Vandenberghe A.
Neurogenetics1:117-123(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMT-X PRO-22; GLY-22; VAL-34; PRO-50; PHE-56; TRP-75; HIS-90; TRP-107; ARG-133; TRP-142; PHE-156; SER-159; ARG-184; LYS-186 AND TRP-215
32.

"Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1."
Ikegami T. , Lin C. , Kato M. , Itoh A. , Nonaka I. , Kurimura M. , Hirayabashi H. , Shinohara Y. , Mochizuki A. , Hayasaka K.
Am. J. Med. Genet.80:352-355(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMT-X MET-37; HIS-57; LEU-172 AND ALA-177
33.

"X-linked Charcot-Marie-Tooth disease and connexin32."
Ionasescu V.V.
Cell Biol. Int.22:807-813(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMT-X SER-3; GLN-22; ALA-70; SER-77; ARG-80; MET-95; GLY-102; TRP-142; TRP-164 AND SER-180
34.

"A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe X-linked Charcot-Marie-Tooth disease."
Sillen A. , Anneren G. , Dahl N.
Hum. Mutat. Suppl.1:S8-S9(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT-X ARG-201
35.

"Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1)."
Sorour E. , Upadhyaya M.
Hum. Mutat. Suppl.1:S242-S247(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMT-X TRP-15; PHE-60; ALA-86; TYR-100; CYS-133 AND SER-205
36.

"Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies."
Silander K. , Meretoja P. , Juvonen V. , Ignatius J. , Pihko H. , Saarinen A. , Wallden T. , Herrgaard E. , Aula P. , Savontaus M.-L.
Hum. Mutat.12:59-68(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMT-X GLN-22; ARG-58; ILE-63; LEU-172; ASP-175 AND PHE-204
37.

"Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression."
Yoshimura T. , Satake M. , Ohnishi A. , Tsutsumi Y. , Fujikura Y.
J. Neurosci. Res.51:154-161(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMT-X SER-53 AND ARG-172;CHARACTERIZATION OF VARIANTS CMT-X SER-53 AND ARG-172
38.

"Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations."
Nicholson G.A. , Yeung L. , Corbett A.
Neurology51:1412-1416(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMT-X TRP-9; GLN-22; THR-28; THR-30; THR-34; MET-35; TRP-107; MET-127; PRO-131; ALA-158; THR-182; PHE-192 AND ILE-239
39.

"HMSN and HNPP. Laboratory service provision in the south west of England -- two years' experience."
Williams M.M. , Tyfield L.A. , Jardine P. , Lunt P.W. , Stevens D.L. , Turnpenny P.D.
Ann. N. Y. Acad. Sci.883:500-503(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMT-X GLN-22; VAL-39; MET-43; PHE-60; THR-104; MET-139; GLN-142; TRP-142; VAL-149 AND GLU-177
40.

"Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin: T55I, R164Q, V120E."
Karadimas C. , Panas M. , Chronopoulou P. , Avramopoulos D. , Vassilopoulos D.
Hum. Mutat.13:339-339(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMT-X ILE-55; GLU-120 AND GLN-164
41.

"Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene."
Baehr M. , Andres F. , Timmerman V. , Nelis M.E. , Van Broeckhoven C. , Dichgans J.
J. Neurol. Neurosurg. Psych.66:202-206(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT-X SER-205
42.

"Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations."
Castro C. , Gomez-Hernandez J.M. , Silander K. , Barrio L.C.
J. Neurosci.19:3752-3760(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANTS CMT-X LYS-208; GLN-215; TRP-215; HIS-238 AND GLY-280
43.

"Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth type 1 and HNPP patients."
Bissar-Tadmouri N. , Parman Y. , Boutrand L. , Deymeer F. , Serdaroglu P. , Vandenberghe A. , Battaloglu E.
Clin. Genet.58:396-402(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMT-X MET-91 AND HIS-211
44.

"A family with X-linked dominant Charcot-Marie-Tooth caused by a connexin32 mutation."
Verhelst H.E. , Lofgren A. , Van Coster R.N.
Eur. J. Paediatr. Neurol.4:235-238(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT-X TYR-126
45.

"Severe X-linked Charcot-Marie-Tooth neuropathy due to new mutations [G59R(G-->C), W44X(G-->A)] in the connexin 32 gene."
Felice K.J. , Seltzer W.K.
Eur. Neurol.44:61-63(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT-X ARG-59
46.

"Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients."
Mersiyanova I.V. , Ismailov S.M. , Polyakov A.V. , Dadali E.L. , Fedotov V.P. , Nelis E. , Loefgren A. , Timmerman V. , Van Broeckhoven C. , Evgrafov O.V.
Hum. Mutat.15:340-347(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMT-X 20-ASN-SER-21; LYS-34; ARG-80; VAL-90; VAL-93; TRP-107; TRP-142; GLN-164; HIS-183; LYS-186; LEU-193 AND LYS-208
47.

Mersiyanova I.V. , Ismailov S.M. , Polyakov A.V. , Dadali E.L. , Fedotov V.P. , Nelis E. , Loefgren A. , Timmerman V. , Van Broeckhoven C. , Evgrafov O.V.
Hum. Mutat.16:175-175(2000)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
48.

"Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease."
Yoshihara T. , Yamamoto M. , Doyu M. , Misu K. , Hattori N. , Hasegawa Y. , Mokuno K. , Mitsuma T. , Sobue G.
Hum. Mutat.16:177-178(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMT-X LEU-69; GLN-142 AND GLN-164
49.

"A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease."
Di Iorio G. , Cappa V. , Ciccodicola A. , Sampaolo S. , Ammendola A. , Sanges G. , Giugliano R. , D'Urso M.
Neurol. Sci.21:109-112(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT-X ILE-8
50.

"Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease."
Dubourg O. , Tardieu S. , Birouk N. , Gouider R. , Leger J.M. , Maisonobe T. , Brice A. , Bouche P. , LeGuern E.
Brain124:1958-1967(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMT-X GLY-22; THR-34; VAL-34; PHE-56; ILE-84; MET-91; ASP-94; GLN-94; MET-95; TRP-107; ILE-130; ARG-133; LEU-141; GLN-142; ALA-158; ASP-159; TRP-164; GLN-164; LYS-186; ARG-199; ASN-203; SER-205; 213-ILE-ILE-214 DELINS LEU AND TRP-215;CHARACTERIZATION OF VARIANTS CMT-X GLY-22; THR-34; PHE-56; GLN-94; MET-95; LYS-186 AND TRP-215
51.

"A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease."
Kochanski A. , Lofgren A. , Jedrzejowska H. , Ryniewicz B. , Czarny-Ratajczak M. , Barciszewska A.-M. , Samocko J. , Hausmanowa-Petrusewicz I. , De Jonghe P. , Timmerman V. , Latos-Bielenska A.
Hum. Mutat.17:157-157(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT-X GLY-208
52.

"Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: mutation analysis in a large cohort of Italian families."
Mostacciuolo M.L. , Righetti E. , Zortea M. , Bosello V. , Schiavon F. , Vallo L. , Merlini L. , Siciliano G. , Fabrizi G.M. , Rizzuto N. , Milani M. , Baratta S. , Taroni F.
Hum. Mutat.18:32-41(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMT-X CYS-7; PRO-8; GLN-22; PRO-25; ASN-30; CYS-59; MET-139; LEU-143 DEL; SER-151; TRP-164 AND LEU-184
53.

"Charcot-Marie-Tooth type X: a novel mutation in the Cx32 gene with central conduction slowing."
Seeman P. , Mazanec R. , Ctvrteckova M. , Smilkova D.
Int. J. Mol. Med.8:461-468(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT-X HIS-65
54.

"Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity."
Young P. , Grote K. , Kuhlenbaeumer G. , Debus O. , Kurlemann H. , Halfter H. , Funke H. , Ringelstein E.B. , Stoegbauer F.
J. Neurol.248:410-415(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMT-X TRP-26; PHE-64; TRP-142; TRP-164 AND TRP-215
55.

"Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene."
Panas M. , Kalfakis N. , Karadimas C. , Vassilopoulos D.
Neurology57:1906-1908(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMTX1 ILE-55
56.

"Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation."
Boerkoel C.F. , Takashima H. , Garcia C.A. , Olney R.K. , Johnson J. , Berry K. , Russo P. , Kennedy S. , Teebi A.S. , Scavina M. , Williams L.L. , Mancias P. , Butler I.J. , Krajewski K. , Shy M. , Lupski J.R.
Ann. Neurol.51:190-201(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMTX1 TRP-15; GLN-22; GLY-102; PRO-108; ILE-205 AND TRP-215
57.

"Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease."
Paulson H.L. , Garbern J.Y. , Hoban T.F. , Krajewski K.M. , Lewis R.A. , Fischbeck K.H. , Grossman R.I. , Lenkinski R. , Kamholz J.A. , Shy M.E.
Ann. Neurol.52:429-434(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMTX1 TRP-142 AND TYR-168
58.

"Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations."
Numakura C. , Lin C. , Ikegami T. , Guldberg P. , Hayasaka K.
Hum. Mutat.20:392-398(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMTX1 TRP-75; GLN-75; VAL-120 DEL; MET-139; LYS-146; ASP-147; VAL-209 DEL AND CYS-264
59.

"Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease."
Lee M.-J. , Nelson I. , Houlden H. , Sweeney M.G. , Hilton-Jones D. , Blake J. , Wood N.W. , Reilly M.M.
J. Neurol. Neurosurg. Psych.73:304-306(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMTX1 CYS-24; ARG-55; ASP-125 AND SER-153
60.

"Diverse trafficking abnormalities of connexin32 mutants causing CMTX."
Yum S.W. , Kleopa K.A. , Shumas S. , Scherer S.S.
Neurobiol. Dis.11:43-52(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANTS CMTX ILE-34; LYS-34; THR-34; VAL-34; MET-35; MET-37; MET-38; VAL-40; GLN-75; PRO-75; TRP-75; ILE-205; VAL-213; CYS-219; HIS-219; GLY-220; CYS-230; LEU-230; HIS-238 AND ILE-239
61.

"X-linked Charcot-Marie-Tooth disease caused by a novel point mutation in the connexin-32 gene."
Ma W. , Farrukh Nizam M. , Grewal R.P.
Neurol. Sci.23:195-197(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMTX1 THR-40
62.

"Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes."
Street V.A. , Meekins G. , Lipe H.P. , Seltzer W.K. , Carter G.T. , Kraft G.H. , Bird T.D.
Neuromuscul. Disord.12:643-650(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMTX1 PRO-49
63.

"Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease."
Abrams C.K. , Bennett M.V.L. , Verselis V.K. , Bargiello T.A.
Proc. Natl. Acad. Sci. U.S.A.99:3980-3984(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANT CMTX1 CYS-85
64.

"Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation."
Hanemann C.O. , Bergmann C. , Senderek J. , Zerres K. , Sperfeld A.-D.
Arch. Neurol.60:605-609(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMTX1 GLU-102 DEL
65.

"Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients."
The study group for hereditary neuropathy in Japan , Hattori N. , Yamamoto M. , Yoshihara T. , Koike H. , Nakagawa M. , Yoshikawa H. , Ohnishi A. , Hayasaka K. , Onodera O. , Baba M. , Yasuda H. , Saito T. , Nakashima K. , Kira J. , Kaji R. , Oka N. , Sobue G.
Brain126:134-151(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMTX1 LEU-26; ALA-55; HIS-57; ILE-63; LEU-69; MET-139; GLN-142; TRP-142; ARG-172; ALA-177; HIS-183; ALA-191 AND TYR-201
66.

"Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1."
Huehne K. , Benes V. , Thiel C. , Kraus C. , Kress W. , Hoeltzenbein M. , Ploner C.J. , Kotzian J. , Reis A. , Rott H.D. , Rautenstrauss B.W.
Hum. Mutat.21:100-100(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMTX1 7-TYR-THR-8 DELINS SER; ASN-138; GLN-164; ALA-172 AND SER-205
67.

"Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32."
Abrams C.K. , Freidin M. , Bukauskas F. , Dobrenis K. , Bargiello T.A. , Verselis V.K. , Bennett M.V.L. , Chen L. , Sahenk Z.
J. Neurosci.23:10548-10558(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMTX1 GLY-102 AND ALA-181;CHARACTERIZATION OF VARIANTS CMTX1 GLY-102 AND ALA-181
68.

"Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients."
Choi B.-O. , Lee M.S. , Shin S.H. , Hwang J.H. , Choi K.-G. , Kim W.-K. , Sunwoo I.N. , Kim N.K. , Chung K.W.
Hum. Mutat.24:185-186(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMTX1 ALA-136; GLN-164 AND ARG-168
69.

Choi B.-O. , Lee M.S. , Shin S.H. , Hwang J.H. , Choi K.-G. , Kim W.-K. , Sunwoo I.N. , Kim N.K. , Chung K.W.
Hum. Mutat.24:350-350(2004)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
70.

"Severe neuropathy with leaky connexin32 hemichannels."
Liang G.S.L. , de Miguel M. , Gomez-Hernandez J.M. , Glass J.D. , Scherer S.S. , Mintz M. , Barrio L.C. , Fischbeck K.H.
Ann. Neurol.57:749-754(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMTX1 CYS-235;CHARACTERIZATION OF VARIANT CMTX1 CYS-235
71.

"X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene."
Vondracek P. , Seeman P. , Hermanova M. , Fajkusova L.
Muscle Nerve31:252-255(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMTX1 SER-127
72.

"Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family."
Chung K.W. , Sunwoo I.N. , Kim S.M. , Park K.D. , Kim W.-K. , Kim T.S. , Koo H. , Cho M. , Lee J. , Choi B.O.
Neurogenetics6:159-163(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DSS ALA-136

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