A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

[1]  A. Mansour,et al.  A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C , 2000, Nature Genetics.

[2]  H. Tonoki,et al.  Identification of an autoimmune enteropathy-related 75-kilodalton antigen. , 1999, Gastroenterology.

[3]  R. M. Shepherd,et al.  Potassium Channels, Sulphonylurea Receptors and Control of Insulin Release , 1999, Trends in Endocrinology & Metabolism.

[4]  Yao-Tseng Chen,et al.  Isoforms of the human PDZ-73 protein exhibit differential tissue expression. , 1999, Biochimica et biophysica acta.

[5]  James M. Anderson,et al.  PDZ domains: fundamental building blocks in the organization of protein complexes at the plasma membrane. , 1999, The Journal of clinical investigation.

[6]  M. Permutt,et al.  Neonatal Hyperinsulinism , 1999, Trends in Endocrinology & Metabolism.

[7]  M. Permutt,et al.  Genetic heterogeneity in familial hyperinsulinism. , 1998, Human molecular genetics.

[8]  A. Lalwani,et al.  A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene. , 1998, Genomics.

[9]  N. Nowak,et al.  Contig maps and genomic sequencing identify candidate genes in the usher 1C locus. , 1998, Genome research.

[10]  T. Gotow,et al.  Expression and Clustered Distribution of an Inwardly Rectifying Potassium Channel, KAB-2/Kir4.1, on Mammalian Retinal Müller Cell Membrane: Their Regulation by Insulin and Laminin Signals , 1997, The Journal of Neuroscience.

[11]  A. Aynsley-Green,et al.  Therapy for persistent hyperinsulinemic hypoglycemia of infancy. Understanding the responsiveness of beta cells to diazoxide and somatostatin. , 1997, The Journal of clinical investigation.

[12]  Yoshihisa Kurachi,et al.  An ATP-Dependent Inwardly Rectifying Potassium Channel, KAB-2 (Kir4.1), in Cochlear Stria Vascularis of Inner Ear: Its Specific Subcellular Localization and Correlation with the Formation of Endocochlear Potential , 1997, The Journal of Neuroscience.

[13]  Y. Hata,et al.  Clustering and Enhanced Activity of an Inwardly Rectifying Potassium Channel, Kir4.1, by an Anchoring Protein, PSD-95/SAP90* , 1997, The Journal of Biological Chemistry.

[14]  J. Weissenbach,et al.  A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. , 1997, Human molecular genetics.

[15]  Peter J. Milla,et al.  Loss of functional KATP channels in pancreatic β–cells causes persistent hyperinsulinemic hypoglycemia of infancy , 1996, Nature Medicine.

[16]  E. Lightner,et al.  Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. , 1996, Human molecular genetics.

[17]  V. Sheffield,et al.  Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. , 1996, Human molecular genetics.

[18]  J. Bryan,et al.  Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. , 1995, Science.

[19]  Steve D. M. Brown,et al.  Defective myosin VIIA gene responsible for Usher syndrome type IB , 1995, Nature.

[20]  C. Möller,et al.  Clinical diagnosis of the Usher syndromes , 1994 .

[21]  C. Möller,et al.  Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. , 1994, American journal of medical genetics.

[22]  W. Reardon,et al.  Localization of two genes for Usher syndrome type I to chromosome 11. , 1992, Genomics.

[23]  D. Bonneau,et al.  A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. , 1992, Genomics.

[24]  R. Elston,et al.  Linkage studies of Usher syndrome: analysis of an Acadian kindred in Louisiana. , 1988, Cytogenetics and cell genetics.

[25]  Marvin B. Shapiro,et al.  RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. , 1987, Nucleic acids research.

[26]  J. Laguaite,et al.  The hereditary snydrome of congenital deafness and retinitis pigmentosa , 1966 .

[27]  J. Laguaite,et al.  The hereditary syndrome of congenital deafness and retinitis pigmentosa. (Usher's syndrome). , 1966, The Laryngoscope.