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  1. Article

    Open Access

    Phenotypic characteristics of early Wolfram syndrome

    Wolfram Syndrome (WFS:OMIM 222300) is an autosomal recessive, progressive, neurologic and endocrinologic degenerative disorder caused by mutations in the WFS1 gene, encoding the endoplasmic reticulum (ER) prot...

    Bess A Marshall, M Alan Permutt… in Orphanet Journal of Rare Diseases (2013)

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    Article

    Common variants in WFS1 confer risk of type 2 diabetes

    We studied genes involved in pancreatic β cell function and survival, identifying associations between SNPs in WFS1 and diabetes risk in UK populations that we replicated in an Ashkenazi population and in additio...

    Man**der S Sandhu, Michael N Weedon, Katherine A Fawcett, Jon Wasson… in Nature Genetics (2007)

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    Article

    A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

    Wolfram syndrome (WFS; OMIM 222300) is an autosomal recessive neurodegenerative disorder defined by young-onset non-immune insulin-dependent diabetes mellitus and progressive optic atrophy. Linkage to markers ...

    Hiroshi Inoue, Yukio Tanizawa, Jon Wasson, Philip Behn, Kamini Kalidas… in Nature Genetics (1998)

  4. Article

    Map** of the human insulin receptor substrate-2 gene, identification of a linked polymorphic marker and linkage analysis in families with Type II diabetes: no evidence for a major susceptibility role

    Insulin receptor substrate 2 (IRS-2) is a substrate of the insulin receptor and mediates the action of the insulin. Disruption of the IRS-2 gene in mice results in peripheral insulin resistance and relative i...

    K. Kalidas, J. Wasson, B. Glaser, J. M. Meyer, L. J. Duprat, M. F. White… in Diabetologia (1998)

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    Article

    Genetic studies of the leptin receptor gene in morbidly obese French Caucasian families

    Family studies have shown that in some populations up to 75% of the variation of body mass index can be explained by genetic factors. However, in humans, no major obesity gene has been identified to date. In ...

    Stephan Francke, Karine Clement, Christian Dina, Hiroshi Inoue… in Human Genetics (1997)

  6. No Access

    Chapter

    Usher Syndrome Type 1C

    The Usher Syndromes are a group of autosomal recessive disorders characterized by congenital sensorineural deafness and progressive pigementory retinopathy. Several types of Usher syndromes (Ush) have been dis...

    Radha Ayyagari, Anren Li, Ann Nestorowicz, Yan Li… in Degenerative Retinal Diseases (1997)

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    Article

    Rat model contributes new loci for NIDDM susceptibility in man

    M. Alan Permutt, Soumitra Ghosh in Nature Genetics (1996)

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    Chapter

    Molecular Genetic Approach to Polygenic Disease: Non-Insulin Dependent Diabetes Mellitus (NIDDM)

    Diabetes is a complex metabolic disorder of carbohydrate, lipid, and protein metabolism which is secondary to insulin deficiency. The insulin deficiency varies in degree, being complete in insulin dependent di...

    M. Alan Permutt, Laszlo Koranyi, Akira Matsutani in DNA Polymorphisms as Disease Markers (1991)

  9. No Access

    Chapter

    The Genetics of Type I and Type II Diabetes: Analysis by Recombinant DNA Methodology

    Susceptibility to IDDM is linked to the HLA-D locus on the short arm of chromosome 6, a region believed to be involved in the process of communication between cells which determines immune responses. Presumabl...

    M. Alan Permutt, Teresa Andreone… in Comparison of Type I and Type II Diabetes (1985)