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  • 検索条件 : 絞込み (MeSH = Pedigree)
生物種 リソース名 タイトル
ゼブラフィッシュ mnr2b-hs:opTDP-43h, mnr2b-hs:EGFP-TDP43z Biallelic variants in DNAJC7 cause familial amyotrophic lateral sclerosis with the TDP-43 pathology.
GAIN id=337 , id=334 , id=336 Direct estimation of de novo mutation rates in a chimpanzee parent-offspring trio by ultra-deep whole genome sequencing
GAIN Human STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179
ゼブラフィッシュ Tg(gad1b:GFP) A deleterious variant of INTS1 leads to disrupted sleep-wake cycles.
ゼブラフィッシュ Tg(CM-isl1:GFP)rw0 Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish.
ゼブラフィッシュ Tg (zCREST2-hsp70:GFP)rw011 A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures.
ヒト・動物細胞 Hep G2 Mutations in the kinesin KIF12 promote MASH in humans and mice by disrupting lipogenic enzyme turnover.
ゼブラフィッシュ hspGFF3A Compound heterozygosity deteriorates phenotypes of hypertrophic cardiomyopathy with founder MYBPC3 mutation: evidence from patients and zebrafish models.
ヒト・動物細胞 KGN(RCB1154) A novel CUL4B gene variant activating Wnt4/β-catenin signal pathway to karyotype 46, XY female with disorders of sex development.
ヒト・動物細胞 409B2(HPS0076) Integrator complex subunit 15 controls mRNA splicing and is critical for eye development.
ヒト・動物細胞 409B2(HPS0076) Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
ゼブラフィッシュ HGj4A Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.
ゼブラフィッシュ gSAIzGFFM593A Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
ヒト・動物細胞 PC-12(RCB0009) SLITRK6 mutations cause myopia and deafness in humans and mice.
ショウジョウバエ 1063R-2 Predicting novel candidate human obesity genes and their site of action by systematic functional screening in Drosophila.
ヒト・動物細胞 OP9(RCB1124) Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies.
ヒト・動物細胞 293(RCB1637) Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels.
ゼブラフィッシュ Tg(cmlc2:mRFP)ko07 Gap junction protein beta 4 plays an important role in cardiac function in humans, rodents, and zebrafish.
ゼブラフィッシュ Tg(TRPC24.5k :gap-Venus)rw037Tg , Tg(OMP2k :gap-CFP)rw034 Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.
ヒト・動物細胞 COS-1(RCB0143) Factor X Deficiency with Heterozygous Mutations of Novel p.G435S and Known p.G244R in a Patient Presenting with Severe Umbilical Hemorrhage.