KRT14 CLIA Kit for Human(Homo sapiens) | EIAab.comKRT14 CLIA Kit for Human(Homo sapiens)

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KRT14 (Gene name),

Keratin, type I cytoskeletal 14 (Protein name ), K1C14_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

KRT14;

Protein name:

Keratin, type I cytoskeletal 14;

Alternative:

Keratin-14(K14);Cytokeratin-14(CK-14);

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Heterotetramer of two type I and two type II keratins. keratin-14 associates with keratin-5. Interacts with TRADD and with keratin filaments. Associates with other type I keratins.

Function:

The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro.

Subcellular Location:

Cytoplasm Nucleus Expressed in both as a filamentous pattern.

Protein Attributes:

Sequence length:

472

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

472:

KVMDVHDGKV | VSTHEQVLRT | KN

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

String:

P02533

Pfam:

PF00038

MIM:

125595

SMR:

P02533

KEGG:

hsa:3861

STRING:

9606.ENSP00000167586

UniGene:

Hs.654380

Uniprot:

P02533

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ELISA Kit for Human Keratin, type I cytoskeletal 14

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E8857m

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96T

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ELISA Kit for Human Keratin, type I cytoskeletal 14

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E8857r

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96T

ELISA Kit for Human Keratin, type I cytoskeletal 14

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E8857c

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96T

ELISA Kit for Human Keratin, type I cytoskeletal 14

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E8857b

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96T

ELISA Kit for Human Keratin, type I cytoskeletal 14

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E8857h

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96T

CLIA Kit for Human Keratin, type I cytoskeletal 14

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U8857h

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96T

CLIA Kit for Human Keratin, type I cytoskeletal 14

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U8857b

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96T

CLIA Kit for Human Keratin, type I cytoskeletal 14

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U8857c

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96T

CLIA Kit for Human Keratin, type I cytoskeletal 14

Cat.:

U8857r

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96T

CLIA Kit for Human Keratin, type I cytoskeletal 14

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U8857m

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Polyclonal Antibody for Human Keratin, type I cytoskeletal 14

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P8857Rb-h

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40ug/0.2ml

Polyclonal Antibody for Human Keratin, type I cytoskeletal 14

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P8857Rb-r

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Polyclonal Antibody for Human Keratin, type I cytoskeletal 14

Cat.:

P8857Rb-m

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Packing:

40ug/0.2ml

Polyclonal Antibody for Human Keratin, type I cytoskeletal 14

Monoclonal Antibody for Human Keratin, type I cytoskeletal 14

Protein for Human Keratin, type I cytoskeletal 14

R&D Technical Data

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Precision

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Recovery

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Linearity

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References

1.

"Remarkable conservation of structure among intermediate filament genes."
Marchuk D. , McCrohon S. , Fuchs E.
Cell39:491-498(1984) [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 [GENOMIC DNA]
2.

"Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene."
Marchuk D. , McCrohon S. , Fuchs E.
Proc. Natl. Acad. Sci. U.S.A.82:1609-1613(1985) [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 [GENOMIC DNA];VARIANT TYR-63
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 (2003-05) 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];VARIANTS TYR-63 AND THR-94
4.

"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C. , Garber M. , Adams D.J. , Sharpe T. , Harrow J. , Lupski J.R. , Nicholson C. , Searle S.M. , Wilming L. , Young S.K. , Abouelleil A. , Allen N.R. , Bi W. , Bloom T. , Borowsky M.L. , Bugalter B.E. , Butler J. , Chang J.L. , more...
Nature440:1045-1049(2006) [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 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];VARIANTS TYR-63 AND THR-94
tissue: Brain.
tissue: Pancreas.
tissue: Skin.
6.

"The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins."
Hanukoglu I. , Fuchs E.
Cell31:243-252(1982) [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] OF 64-472
tissue: Epidermis.
7.

"Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex."
Chan Y.-M. , Cheng J. , Gedde-Dahl T. Jr. , Niemi K.M. , Fuchs E.
J. Invest. Dermatol.106:327-334(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: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 117-132;VARIANT DM-EBS ASP-129
8.

"Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses."
Coulombe P.A. , Hutton M.E. , Letai A. , Hebert A. , Paller A.S. , Fuchs E.
Cell66:1301-1311(1991) [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 [GENOMIC DNA] OF 118-126;VARIANTS DM-EBS PHE-122; CYS-125 AND HIS-125
9.

"A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex."
Yamanishi K. , Matsuki M. , Konishi K. , Yasuno H.
Hum. Mol. Genet.3:1171-1172(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: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 118-126;VARIANT K-EBS PHE-122
10.

"A novel mutation of cytokeratin 14 in a Japanese epidermolysis bullosa simplex family."
Fujiwara H.
Submitted (1999-09) 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 352-424;VARIANT K-EBS THR-413
11.

"Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle."
Bowden P.E. , Hainey S.D. , Parker G. , Jones D.O. , Zimonjic D. , Popescu N. , Hodgins M.B.
J. Invest. Dermatol.110:158-164(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: TISSUE SPECIFICITY
12.

"Keratin attenuates tumor necrosis factor-induced cytotoxicity through association with TRADD."
Inada H. , Izawa I. , Nishizawa M. , Fujita E. , Kiyono T. , Takahashi T. , Momoi T. , Inagaki M.
J. Cell Biol.155:415-426(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: INTERACTION WITH TRADD
13.

"The nonhelical tail domain of keratin 14 promotes filament bundling and enhances the mechanical properties of keratin intermediate filaments in vitro."
Bousquet O. , Ma L. , Yamada S. , Gu C. , Idei T. , Takahashi K. , Wirtz D. , Coulombe P.A.
J. Cell Biol.155:747-754(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: FUNCTION;INTERACTION WITH KERATIN FILAMENTS;SUBCELLULAR LOCATION
14.

"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Daub H. , Olsen J.V. , Bairlein M. , Gnad F. , Oppermann F.S. , Korner R. , Greff Z. , Keri G. , Stemmann O. , Mann M.
Mol. Cell31:438-448(2008) [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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
15.

"Initial characterization of the human central proteome."
Burkard T.R. , Planyavsky M. , Kaupe I. , Breitwieser F.P. , Buerckstuemmer T. , Bennett K.L. , Superti-Furga G. , Colinge J.
BMC Syst. Biol.5:17-17(2011) [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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
16.

"Structural basis for heteromeric assembly and perinuclear organization of keratin filaments."
Lee C.H. , Kim M.S. , Chung B.M. , Leahy D.J. , Coulombe P.A.
Nat. Struct. Mol. Biol.19:707-715(2012) [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: X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF 295-422 IN COMPLEX WITH KRT5;DISULFIDE BOND;SUBCELLULAR LOCATION
17.

"Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities."
Bonifas J.M. , Rothman A.L. , Epstein E.H. Jr.
Science254:1202-1205(1991) [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 K-EBS PRO-384
18.

"A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375."
Chen M.A. , Bonifas J.M. , Matsumura K. , Blumenfeld A. , Epstein E.H. Jr.
Hum. Mol. Genet.2:1971-1972(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: VARIANT WC-EBS GLU-375 DEL
19.

"A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex."
Humphries M.M. , Sheils D.M. , Farrar G.J. , Kumar-Singh R. , Kenna P.F. , Mansergh F.C. , Jordan S.A. , Young M.M. , Humphries P.
Hum. Mutat.2:37-42(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: VARIANT K-EBS ARG-272
20.

"A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis."
Stephens K. , Sybert V.P. , Wijsman E.M. , Ehrlich P. , Spencer A.
J. Invest. Dermatol.101:240-243(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: VARIANT DM-EBS HIS-125
21.

"A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex."
Hovnanian A. , Pollack E. , Hilal L. , Rochat A. , Prost C. , Barrandon Y. , Goossens M.
Nat. Genet.3:327-331(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: VARIANT EBSB1 ALA-144
22.

"Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function."
Rugg E.L. , Morley S.M. , Smith F.J.D. , Boxer M. , Tidman M.J. , Navsaria H.A. , Leigh I.M. , Lane E.B.
Nat. Genet.5:294-300(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: VARIANT WC-EBS MET-270
23.

"Keratin 14 gene mutations in patients with epidermolysis bullosa simplex."
Chen H. , Bonifas J.M. , Matsumura K. , Ikeda S. , Leyden W.A. , Epstein E.H. Jr.
J. Invest. Dermatol.105:629-632(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 WC-EBS ILE-119; ASP-274; ASN-377 AND CYS-388;VARIANTS DM-EBS ARG-120; CYS-125 AND SER-125
24.

"Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex: increased severity of disease in a homozygote."
Hu Z.L. , Smith L. , Martins S. , Bonifas J.M. , Chen H. , Epstein E.H. Jr.
J. Invest. Dermatol.109:360-364(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: VARIANT WC-EBS ILE-119
25.

"Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14)."
Shemanko C.S. , Mellerio J.E. , Tidman M.J. , Lane E.B. , Eady R.A.J.
J. Invest. Dermatol.111:893-895(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 DM-EBS THR-119
26.

"Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex."
Mueller F.B. , Kuester W. , Bruckner-Tuderman L. , Korge B.P.
J. Invest. Dermatol.111:900-902(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 WC-EBS GLY-273
27.

"A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex."
Sasaki Y. , Shimizu H. , Akiyama M. , Hiraoka Y. , Takizawa Y. , Yamada S. , Morishima Y. , Yamanishi K. , Aiso S. , Nishikawa T.
Br. J. Dermatol.141:747-748(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 DM-EBS CYS-125
28.

"Genomic keratin 14 mutation detection in epidermolysis bullosa simplex."
Hut P.H.L. , van der Vlies P. , Jonkman M.F. , Shimizu H. , Buys C.H.C.M. , Scheffer H.
Eur. J. Hum. Genet. Suppl.7:121-121(1999)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT K-EBS HIS-415;VARIANT DM-EBS GLN-419
29.

"Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype."
Soerensen C.B. , Ladekjaer-Mikkelsen A.-S. , Andresen B.S. , Brandrup F. , Veien N.K. , Buus S.K. , Anton-Lamprecht I. , Kruse T.A. , Jensen P.K.A. , Eiberg H. , Bolund L. , Gregersen N.
J. Invest. Dermatol.112:184-190(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 WC-EBS ASN-116;VARIANT DM-EBS SER-123;VARIANT K-EBS PRO-143;VARIANT THR-94;SEQUENCE REVISION TO 25 AND 43
30.

"Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential."
Shemanko C.S. , Horn H.M. , Keohane S.G. , Hepburn N. , Kerr A.I.G. , Atherton D.J. , Tidman M.J. , Lane E.B.
Br. J. Dermatol.142:315-320(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 DM-EBS HIS-125
31.

"Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot analysis."
Hut P.H.L. , van der Vlies P. , Jonkman M.F. , Verlind E. , Shimizu H. , Buys C.H.C.M. , Scheffer H.
J. Invest. Dermatol.114:616-619(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 DM-EBS CYS-125; HIS-125 AND GLN-419;VARIANTS K-EBS ASP-247 AND HIS-415;VARIANT WC-EBS LYS-422
32.

"DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex."
Rugg E.L. , Baty D. , Shemanko C.S. , Magee G. , Polak S. , Bergman R. , Kadar T. , Boxer M. , Falik-Zaccai T. , Borochowitz Z. , Lane E.B.
Prenat. Diagn.20:371-377(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 DM-EBS CYS-125 AND HIS-415;VARIANT K-EBS PRO-134
33.

"Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes."
Cummins R.E. , Klingberg S. , Wesley J. , Rogers M. , Zhao Y. , Murrell D.F.
J. Invest. Dermatol.117:1103-1107(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 DM-EBS THR-119;VARIANT K-EBS VAL-119
34.

"Epidermolysis bullosa simplex in Israel: clinical and genetic features."
Ciubotaru D. , Bergman R. , Baty D. , Indelman M. , Pfendner E. , Petronius D. , Moualem H. , Kanaan M. , Ben Amitai D. , McLean W.H.I. , Uitto J. , Sprecher E.
Arch. Dermatol.139:498-505(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 WC-EBS HIS-388 AND CYS-415;VARIANT DM-EBS HIS-125
35.

Ciubotaru D. , Bergman R. , Baty D. , Indelman M. , Pfendner E. , Petronius D. , Moualem H. , Kanaan M. , Ben Amitai D. , McLean W.H.I. , Uitto J. , Sprecher E.
Arch. Dermatol.139:1084-1084(2003)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
36.

"Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations."
Schuilenga-Hut P.H.L. , Vlies P. , Jonkman M.F. , Waanders E. , Buys C.H.C.M. , Scheffer H.
Hum. Mutat.21:447-447(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 DM-EBS PRO-130 AND GLN-419;VARIANT WC-EBS MET-408
37.

"Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients."
Wood P. , Baty D.U. , Lane E.B. , McLean W.H.I.
J. Invest. Dermatol.120:495-497(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 DM-EBS SER-128 DEL AND PRO-416;VARIANT WC-EBS CYS-148
38.

"Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex."
Csikos M. , Szalai Z. , Becker K. , Sebok B. , Schneider I. , Horvath A. , Karpati S.
Exp. Dermatol.13:185-191(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 DM-EBS LYS-123 AND GLY-125;VARIANT WC-EBS LEU-133
39.

"Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14."
Lugassy J. , Itin P. , Ishida-Yamamoto A. , Holland K. , Huson S. , Geiger D. , Hennies H.C. , Indelman M. , Bercovich D. , Uitto J. , Bergman R. , McGrath J.A. , Richard G. , Sprecher E.
Am. J. Hum. Genet.79:724-730(2006) [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: INVOLVEMENT IN NFJS;INVOLVEMENT IN DPR
40.

"Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases."
Yasukawa K. , Sawamura D. , Goto M. , Nakamura H. , Jung S.-Y. , Kim S.-C. , Shimizu H.
Br. J. Dermatol.155:313-317(2006) [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 WC-EBS VAL-119;VARIANTS DM-EBS HIS-125 AND CYS-125
41.

"Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly."
Mueller F.B. , Kuester W. , Wodecki K. , Almeida H. Jr. , Bruckner-Tuderman L. , Krieg T. , Korge B.P. , Arin M.J.
Hum. Mutat.27:719-720(2006) [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 DM-EBS LYS-123; CYS-125; HIS-125 AND PRO-417;VARIANTS K-EBS LEU-133; THR-272 AND PRO-384;VARIANTS WC-EBS PRO-211 AND GLU-411 DEL
42.

"Novel KRT14 mutation causing epidermolysis bullosa simplex with variable phenotype."
Jankowski M. , Wertheim-Tysarowska K. , Jakubowski R. , Sota J. , Nowak W. , Czajkowski R.
Exp. Dermatol.23:684-687(2014) [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 GLN-418

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