"Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein."
Strom T.M. , Hoertnagel K. , Hofmann S. , Gekeler F. , Scharfe C. , Rabl W. , Gerbitz K.-D. , Meitinger T.
Hum. Mol. Genet.7:2021-2028(1998) [PubMed] [Europe PMC] [Abstract]

"A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram Syndrome)."
Inoue H. , Tanizawa Y. , Wasson J. , Behn P. , Kalidas K. , Bernal-Mizrachi E. , Mueckler M. , Marshall H. , Donis-Keller H. , Crock P. , Rogers D. , Mikuni M. , Kumashiro H. , Higashi K. , Sobue G. , Oka Y. , Permutt M.A.
Nat. Genet.20:143-148(1998) [PubMed] [Europe PMC] [Abstract]

"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. , Yamamoto J. , Saito K. , Kawai Y. , Isono Y. , Nakamura Y. , Nagahari K. , Murakami K. , Yasuda T. , Iwayanagi T. , Wagatsuma M. , Shiratori A. , Sudo H. , Hosoiri T. , Kaku Y. , Kodaira H. , Kondo H. , Sugawara M. , Takahashi M. , Kanda K. , Yokoi T. , Furuya T. , Kikkawa E. , Omura Y. , Abe K. , Kamihara K. , Katsuta N. , Sato K. , Tanikawa M. , Yamazaki M. , Ninomiya K. , Ishibashi T. , Yamashita H. , Murakawa K. , Fujimori K. , Tanai H. , Kimata M. , Watanabe M. , Hiraoka S. , Chiba Y. , Ishida S. , Ono Y. , Takiguchi S. , Watanabe S. , Yosida M. , Hotuta T. , Kusano J. , Kanehori K. , Takahashi-Fujii A. , Hara H. , Tanase T.-O. , Nomura Y. , Togiya S. , Komai F. , Hara R. , Takeuchi K. , Arita M. , Imose N. , Musashino K. , Yuuki H. , Oshima A. , Sasaki N. , Aotsuka S. , Yoshikawa Y. , Matsunawa H. , Ichihara T. , Shiohata N. , Sano S. , Moriya S. , Momiyama H. , Satoh N. , Takami S. , Terashima Y. , Suzuki O. , Nakagawa S. , Senoh A. , Mizoguchi H. , Goto Y. , Shimizu F. , Wakebe H. , Hishigaki H. , Watanabe T. , Sugiyama A. , Takemoto M. , Kawakami B. , Yamazaki M. , Watanabe K. , Kumagai A. , Itakura S. , Fukuzumi Y. , Fujimori Y. , Komiyama M. , Tashiro H. , Tanigami A. , Fujiwara T. , Ono T. , Yamada K. , Fujii Y. , Ozaki K. , Hirao M. , Ohmori Y. , Kawabata A. , Hikiji T. , Kobatake N. , Inagaki H. , Ikema Y. , Okamoto S. , Okitani R. , Kawakami T. , Noguchi S. , Itoh T. , Shigeta K. , Senba T. , Matsumura K. , Nakajima Y. , Mizuno T. , Morinaga M. , Sasaki M. , Togashi T. , Oyama M. , Hata H. , Watanabe M. , Komatsu T. , Mizushima-Sugano J. , Satoh T. , Shirai Y. , Takahashi Y. , Nakagawa K. , Okumura K. , Nagase T. , Nomura N. , Kikuchi H. , Masuho Y. , Yamashita R. , Nakai K. , Yada T. , Nakamura Y. , Ohara O. , Isogai T. , Sugano S. more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W. , Graves T.A. , Fulton R.S. , Fulton L.A. , Pepin K.H. , Minx P. , Wagner-McPherson C. , Layman D. , Wylie K. , Sekhon M. , Becker M.C. , Fewell G.A. , Delehaunty K.D. , Miner T.L. , Nash W.E. , Kremitzki C. , Oddy L. , Du H. , Sun H. , Bradshaw-Cordum H. , Ali J. , Carter J. , Cordes M. , Harris A. , Isak A. , van Brunt A. , Nguyen C. , Du F. , Courtney L. , Kalicki J. , Ozersky P. , Abbott S. , Armstrong J. , Belter E.A. , Caruso L. , Cedroni M. , Cotton M. , Davidson T. , Desai A. , Elliott G. , Erb T. , Fronick C. , Gaige T. , Haakenson W. , Haglund K. , Holmes A. , Harkins R. , Kim K. , Kruchowski S.S. , Strong C.M. , Grewal N. , Goyea E. , Hou S. , Levy A. , Martinka S. , Mead K. , McLellan M.D. , Meyer R. , Randall-Maher J. , Tomlinson C. , Dauphin-Kohlberg S. , Kozlowicz-Reilly A. , Shah N. , Swearengen-Shahid S. , Snider J. , Strong J.T. , Thompson J. , Yoakum M. , Leonard S. , Pearman C. , Trani L. , Radionenko M. , Waligorski J.E. , Wang C. , Rock S.M. , Tin-Wollam A.-M. , Maupin R. , Latreille P. , Wendl M.C. , Yang S.-P. , Pohl C. , Wallis J.W. , Spieth J. , Bieri T.A. , Berkowicz N. , Nelson J.O. , Osborne J. , Ding L. , Meyer R. , Sabo A. , Shotland Y. , Sinha P. , Wohldmann P.E. , Cook L.L. , Hickenbotham M.T. , Eldred J. , Williams D. , Jones T.A. , She X. , Ciccarelli F.D. , Izaurralde E. , Taylor J. , Schmutz J. , Myers R.M. , Cox D.R. , Huang X. , McPherson J.D. , Mardis E.R. , Clifton S.W. , Warren W.C. , Chinwalla A.T. , Eddy S.R. , Marra M.A. , Ovcharenko I. , Furey T.S. , Miller W. , Eichler E.E. , Bork P. , Suyama M. , Torrents D. , Waterston R.H. , Wilson R.K. more...
Nature434:724-731(2005) [PubMed] [Europe PMC] [Abstract]

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. , Yooseph S. , Lu F. , Nusskern D.R. , Shue B.C. , Zheng X.H. , Zhong F. , Delcher A.L. , Huson D.H. , Kravitz S.A. , Mouchard L. , Reinert K. , Remington K.A. , Clark A.G. , Waterman M.S. , Eichler E.E. , Adams M.D. , Hunkapiller M.W. , Myers E.W. , Venter J.C. more...
Submitted (2005-09) to the EMBL/GenBank/DDBJ databases

"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]

"WFS1 protein modulates the free Ca(2+) concentration in the endoplasmic reticulum."
Takei D. , Ishihara H. , Yamaguchi S. , Yamada T. , Tamura A. , Katagiri H. , Maruyama Y. , Oka Y.
FEBS Lett.580:5635-5640(2006) [PubMed] [Europe PMC] [Abstract]

"WFS1/wolframin mutations, Wolfram syndrome, and associated diseases."
Khanim F. , Kirk J. , Latif F. , Barrett T.G.
Hum. Mutat.17:357-367(2001) [PubMed] [Europe PMC] [Abstract]

"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]

"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P. , Lasa M. , Polevoda B. , Gazquez C. , Elosegui-Artola A. , Kim D.S. , De Juan-Pardo E. , Demeyer K. , Hole K. , Larrea E. , Timmerman E. , Prieto J. , Arnesen T. , Sherman F. , Gevaert K. , Aldabe R.
Proc. Natl. Acad. Sci. U.S.A.109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]

"Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1."
Hardy C. , Khanim F. , Torres R. , Scott-Brown M. , Seller A. , Poulton J. , Collier D. , Kirk J. , Polymeropoulos M. , Latif F. , Barrett T.
Am. J. Hum. Genet.65:1279-1290(1999) [PubMed] [Europe PMC] [Abstract]

"A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases."
Furlong R.A. , Ho L.W. , Rubinsztein J.S. , Michael A. , Walsh C. , Paykel E.S. , Rubinsztein D.C.
Neurosci. Lett.277:123-126(1999) [PubMed] [Europe PMC] [Abstract]

"Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis."
Awata T. , Inoue K. , Kurihara S. , Ohkubo T. , Inoue I. , Abe T. , Takino H. , Kanazawa Y. , Katayama S.
Biochem. Biophys. Res. Commun.268:612-616(2000) [PubMed] [Europe PMC] [Abstract]

"WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder."
Ohtsuki T. , Ishiguro H. , Yoshikawa T. , Arinami T.
J. Affect. Disord.58:11-17(2000) [PubMed] [Europe PMC] [Abstract]

"Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss."
Bespalova I.N. , Van Camp G. , Bom S.J.H. , Brown D.J. , Cryns K. , DeWan A.T. , Erson A.E. , Flothmann K. , Kunst H.P.M. , Kurnool P. , Sivakumaran T.A. , Cremers C.W.R.J. , Leal S.M. , Burmeister M. , Lesperance M.M.
Hum. Mol. Genet.10:2501-2508(2001) [PubMed] [Europe PMC] [Abstract]

"Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1."
Young T.-L. , Ives E. , Lynch E. , Person R. , Snook S. , MacLaren L. , Cater T. , Griffin A. , Fernandez B. , Lee M.K. , King M.-C.
Hum. Mol. Genet.10:2509-2514(2001) [PubMed] [Europe PMC] [Abstract]

Young T.L. , Ives E. , Lynch E. , Person R. , Snook S. , MacLaren L. , Cater T. , Griffin A. , Fernandez B. , Lee M.K. , King M.C.
Hum. Mol. Genet.10:3111-3111(2001)

"Identification of novel WFS1 mutations in Italian children with Wolfram syndrome."
Tessa A. , Carbone I. , Matteoli M.C. , Bruno C. , Patrono C. , Patera I.P. , De Luca F. , Lorini R. , Santorelli F.M.
Hum. Mutat.17:348-349(2001) [PubMed] [Europe PMC] [Abstract]

"Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family."
Komatsu K. , Nakamura N. , Ghadami M. , Matsumoto N. , Kishino T. , Ohta T. , Niikawa N. , Yoshiura K.
J. Hum. Genet.47:395-399(2002) [PubMed] [Europe PMC] [Abstract]

"Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees."
Gomez-Zaera M. , Strom T.M. , Rodriguez B. , Estivill X. , Meitinger T. , Nunes V.
Mol. Genet. Metab.72:72-81(2001) [PubMed] [Europe PMC] [Abstract]

"Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene."
Giuliano F. , Bannwarth S. , Monnot S. , Cano A. , Chabrol B. , Vialettes B. , Delobel B. , Paquis-Flucklinger V.
Hum. Mutat.25:99-100(2005) [PubMed] [Europe PMC] [Abstract]

"Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene."
Eiberg H. , Hansen L. , Kjer B. , Hansen T. , Pedersen O. , Bille M. , Rosenberg T. , Tranebjaerg L.
J. Med. Genet.43:435-440(2006) [PubMed] [Europe PMC] [Abstract]

"Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1."
Hildebrand M.S. , Sorensen J.L. , Jensen M. , Kimberling W.J. , Smith R.J.
Am. J. Med. Genet. A146:2258-2265(2008) [PubMed] [Europe PMC] [Abstract]

"Autosomal dominant optic neuropathy and sensorineural hearing loss associated with a novel mutation of WFS1."
Hogewind B.F. , Pennings R.J. , Hol F.A. , Kunst H.P. , Hoefsloot E.H. , Cruysberg J.R. , Cremers C.W.
Mol. Vis.16:26-35(2010) [PubMed] [Europe PMC] [Abstract]

"Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment."
Rendtorff N.D. , Lodahl M. , Boulahbel H. , Johansen I.R. , Pandya A. , Welch K.O. , Norris V.W. , Arnos K.S. , Bitner-Glindzicz M. , Emery S.B. , Mets M.B. , Fagerheim T. , Eriksson K. , Hansen L. , Bruhn H. , Moller C. , Lindholm S. , Ensgaard S. , Lesperance M.M. , Tranebjaerg L. more...
Am. J. Med. Genet. A155:1298-1313(2011) [PubMed] [Europe PMC] [Abstract]

"Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease."
Lieber D.S. , Vafai S.B. , Horton L.C. , Slate N.G. , Liu S. , Borowsky M.L. , Calvo S.E. , Schmahmann J.D. , Mootha V.K.
BMC Med. Genet.13:3-3(2012) [PubMed] [Europe PMC] [Abstract]

"Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans."
Berry V. , Gregory-Evans C. , Emmett W. , Waseem N. , Raby J. , Prescott D. , Moore A.T. , Bhattacharya S.S.
Eur. J. Hum. Genet.21:1356-1360(2013) [PubMed] [Europe PMC] [Abstract]