SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway

Human Molecular Genetics

Volumn 18, Issue 12, 2009, Pages 2257-2265

  Cliffe, Simon T ^a,b   Kramer, Jamie M ^c   Hussain, Khalid ^d   Robben, Joris H ^e   De Jong, Eiko K ^c   De Brouwer, Arjan P ^c   Nibbeling, Esther ^c   Kamsteeg, Erik Jan ^c   Wong, Melanie ^f   Prendiville, Julie ^g   James, Chela ^d   Padidela, Raja ^d   Becknell, Charlie ^h   van Bokhoven, Hans ^c   Deen, Peter M T ^e   Hennekam, Raoul C M ^d   Lindeman, Robert ^a,b   Schenck, Annette ^c   Roscioli, Tony ^a,c   Buckley, Michael F ^a,c  

^a New South Wales Government   (Australia)

^b UNIVERSITY OF NEW SOUTH WALES   (Australia)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^g BC CHILDREN S HOSPITAL   (Canada)

^h Dermatology Associates of Kentucky   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; INSULIN; INSULIN RECEPTOR; MEMBRANE PROTEIN; NUCLEIC ACID BASE; NUCLEOSIDE; PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN ISLET; PROTEIN KINASE B; PROTEIN SLC29A3; PROTIEN ENT1; PROTIEN ENT3; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CELL COUNT; CELL GROWTH; CELL SIZE; CONTROLLED STUDY; DROSOPHILA MELANOGASTER; GENE FUNCTION; GENE IDENTIFICATION; GENE INTERACTION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPERTRICHOSIS; INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; PHENOTYPE; PIGMENTED HYPERTRICHOSIS; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SIGNAL TRANSDUCTION;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; DIABETES MELLITUS, TYPE 1; DISEASE MODELS, ANIMAL; DROSOPHILA MELANOGASTER; DROSOPHILA PROTEINS; FEMALE; HUMANS; HYPERTRICHOSIS; INSULIN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEOSIDE TRANSPORT PROTEINS; PEDIGREE; RECEPTOR, INSULIN; SEQUENCE ALIGNMENT; SIGNAL TRANSDUCTION; SKIN PIGMENTATION;

DROSOPHILA MELANOGASTER;

EID: 66149099643     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp161     Document Type: Article

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