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  • Search Condition : Filter (MeSH = Pedigree)
Species Resource Title
Human and Animal Cells MC3T3-E1(RCB1126) Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation.
DNA material NRCD human cDNA clones (RDB06607) , ARi57A02 (HKR182802) Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
Human and Animal Cells Control iPS Functional evaluation of the pathological significance of MEFV variants using induced pluripotent stem cell-derived macrophages.
Human and Animal Cells 293T(RCB2202) Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.
Mice , Human and Animal Cells C57BL/6-Tg(CAG-flpe)36Ito/ItoRbrc(RBRC01834) , HeLa(RCB0007) Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.
Zebrafish Tg(CM-isl1:GFP) Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
Human and Animal Cells SRA 01/04(RCB1591) The impact of GJA8 SNPs on susceptibility to age-related cataract.
DNA material CS-CA-MCS (RDB05963) Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome.
C.elegans tm1830 , tm324 , tm925 , tm2322 , tm3100 KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.
C.elegans tm373 Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
Zebrafish Tg(HuC:Kaede) Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
Drosophila CAS-0001 Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms.
Zebrafish Tg(CM-isl1:GFP) Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.
DNA material pEF-BOS FLAG-mouse Rab29 (RDB14971) , pEF-BOS FLAG-mouse Rab29-Q67L (RDB14972) , pEF-BOS FLAG-mouse Rab29-T21N (RDB14973). C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia.
DNA material Genome Network Project Human cDNA IRAK013C20 (HGX005268) Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.
DNA material Genome Network Project Human cDNA IRAL058O23 (HGY103559). Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy.
C.elegans tm1231 Transgenerational epigenetic inheritance of longevity in Caenorhabditis elegans.
Human and Animal Cells Recurrent CDC25C mutations drive malignant transformation in FPD/AML.
Human and Animal Cells A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.
Human and Animal Cells Increased expression of survivin in gastric cancer patients and in first degree relatives.