Pages that link to "Q2720965"
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The following pages link to Human Molecular Genetics (Q2720965):
Displaying 50 items.
- Identification of a human homologue of the sea urchin receptor for egg jelly: a polycystic kidney disease-like protein (Q22001473) (← links)
- The 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 abnormalities (Q22001474) (← links)
- The Batten disease gene product (CLN3p) is a Golgi integral membrane protein (Q22001475) (← links)
- A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2) (Q22001499) (← links)
- 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 blindness (Q22001500) (← links)
- Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA (Q22001542) (← links)
- Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7 (Q22003756) (← links)
- Novel immunogenic antigen homologous to hyaluronidase in meningioma (Q22007984) (← links)
- Analysis of the human GDNF gene reveals an inducible promoter, three exons, a triplet repeat within the 3'-UTR and alternative splice products (Q22007985) (← links)
- Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein (Q22008011) (← links)
- A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network (Q22008012) (← links)
- Characterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complex (Q22008013) (← links)
- EYA4, a novel vertebrate gene related to Drosophila eyes absent (Q22008660) (← links)
- Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy (Q22008662) (← links)
- A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases (Q22008663) (← links)
- Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma (Q22008664) (← links)
- Cloning and characterization of a secreted frizzled-related protein that is expressed by the retinal pigment epithelium (Q22009003) (← links)
- Functional domains of the SYT and SYT-SSX synovial sarcoma translocation proteins and co-localization with the SNF protein BRM in the nucleus (Q22009004) (← links)
- A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region (Q22009166) (← links)
- Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy (Q22009167) (← links)
- Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy (Q22009998) (← links)
- T-STAR/ETOILE: a novel relative of SAM68 that interacts with an RNA-binding protein implicated in spermatogenesis (Q22010044) (← links)
- Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL) (Q22010059) (← links)
- MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development (Q22010244) (← links)
- Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome (Q22010246) (← links)
- Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency (Q22010247) (← links)
- Novel alternatively spliced isoforms of the neurofibromatosis type 2 tumor suppressor are targeted to the nucleus and cytoplasmic granules (Q22010248) (← links)
- Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis (Q22010367) (← links)
- A common polymorphic allele of the human luteinizing hormone beta-subunit gene: additional mutations and differential function of the promoter sequence (Q22010368) (← links)
- The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II (Q22010369) (← links)
- Ectodysplasin 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 cells (Q22010370) (← links)
- A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses (Q22010746) (← links)
- Two murine and human homologs of mab-21, a cell fate determination gene involved in Caenorhabditis elegans neural development (Q22010775) (← links)
- Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP) (Q22010776) (← links)
- Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita (Q22010777) (← links)
- A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein (Q22010778) (← links)
- Identification 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 expression (Q22010962) (← links)
- Myoferlin, a candidate gene and potential modifier of muscular dystrophy (Q22010963) (← links)
- A novel human odorant-binding protein gene family resulting from genomic duplicons at 9q34: differential expression in the oral and genital spheres (Q22010964) (← links)
- A human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteins (Q22010965) (← links)
- Non-coding RNA (Q22066043) (← links)
- Small fitness effect of mutations in highly conserved non-coding regions (Q22066045) (← links)
- Single nucleotide polymorphisms as tools in human genetics (Q22066046) (← links)
- Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease (Q22242868) (← links)
- Parkinson's disease: from monogenic forms to genetic susceptibility factors (Q22242870) (← links)
- Recent advances in the genetics of schizophrenia (Q22242872) (← links)
- Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association (Q22253267) (← links)
- Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA (Q22253269) (← links)
- Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location (Q22253481) (← links)
- RBMY, a probable human spermatogenesis factor, and other hnRNP G proteins interact with Tra2beta and affect splicing (Q22253484) (← links)