Identification of a human homologue of the sea urchin receptor for egg jelly: a polycystic kidney disease-like proteinThe ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalitiesThe Batten disease gene product (CLN3p) is a Golgi integral membrane proteinA novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindnessRelative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinANuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7Novel immunogenic antigen homologous to hyaluronidase in meningiomaAnalysis of the human GDNF gene reveals an inducible promoter, three exons, a triplet repeat within the 3'-UTR and alternative splice productsDiabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane proteinA C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi networkCharacterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complexEYA4, a novel vertebrate gene related to Drosophila eyes absentCardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophyA novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposasesHaploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratodermaCloning and characterization of a secreted frizzled-related protein that is expressed by the retinal pigment epitheliumFunctional domains of the SYT and SYT-SSX synovial sarcoma translocation proteins and co-localization with the SNF protein BRM in the nucleusA novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical regionAdrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapyMyotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophyT-STAR/ETOILE: a novel relative of SAM68 that interacts with an RNA-binding protein implicated in spermatogenesisDefective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during developmentCellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndromeEnoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiencyNovel alternatively spliced isoforms of the neurofibromatosis type 2 tumor suppressor are targeted to the nucleus and cytoplasmic granulesCoats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesisA common polymorphic allele of the human luteinizing hormone beta-subunit gene: additional mutations and differential function of the promoter sequenceThe gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type IIEctodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cellsA direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostosesTwo murine and human homologs of mab-21, a cell fate determination gene involved in Caenorhabditis elegans neural developmentEpstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP)Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenitaA novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) proteinIdentification and characterization of MTR1, a novel gene with homology to melastatin (MLSN1) and the trp gene family located in the BWS-WT2 critical region on chromosome 11p15.5 and showing allele-specific expressionMyoferlin, a candidate gene and potential modifier of muscular dystrophyA novel human odorant-binding protein gene family resulting from genomic duplicons at 9q34: differential expression in the oral and genital spheresA human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteins
P1433
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P1433
description
Wissenschaftliche Fachzeitschrift
@de
journal
@en
revista científica
@es
revue scientifique
@fr
rivista scientifica
@it
vědecký časopis
@cs
wetenschappelijk tijdschrift van Oxford University Press
@nl
مجلة
@ar
वैज्ञानिक पत्रिका
@hi
英语期刊
@zh
name
Human Molecular Genetics
@ast
Human Molecular Genetics
@da
Human Molecular Genetics
@de
Human Molecular Genetics
@en
Human Molecular Genetics
@es
Human Molecular Genetics
@fi
Human Molecular Genetics
@fr
Human Molecular Genetics
@it
Human Molecular Genetics
@nb
Human Molecular Genetics
@nl
type
label
Human Molecular Genetics
@ast
Human Molecular Genetics
@da
Human Molecular Genetics
@de
Human Molecular Genetics
@en
Human Molecular Genetics
@es
Human Molecular Genetics
@fi
Human Molecular Genetics
@fr
Human Molecular Genetics
@it
Human Molecular Genetics
@nb
Human Molecular Genetics
@nl
altLabel
Hum Mol Genet
@de
Hum. Mol. Genet.
@de
Human molecular genetics
@de
prefLabel
Human Molecular Genetics
@ast
Human Molecular Genetics
@da
Human Molecular Genetics
@de
Human Molecular Genetics
@en
Human Molecular Genetics
@es
Human Molecular Genetics
@fi
Human Molecular Genetics
@fr
Human Molecular Genetics
@it
Human Molecular Genetics
@nb
Human Molecular Genetics
@nl
P243
P3181
P4616
P1055
P1058
P1144
P1156
P1250
P1277
P1476
Human Molecular Genetics
@en
P236
P243
P3417
Human-Molecular-Genetics
P407
P571
1972-01-01T00:00:00Z