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Human and Animal Cells KGN(RCB1154) A novel CUL4B gene variant activating Wnt4/β-catenin signal pathway to karyotype 46, XY female with disorders of sex development.
Human and Animal Cells 409B2(HPS0076) Integrator complex subunit 15 controls mRNA splicing and is critical for eye development.
Human and Animal Cells 409B2(HPS0076) Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Zebrafish HGj4A Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.
Zebrafish gSAIzGFFM593A Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
Human and Animal Cells PC-12(RCB0009) SLITRK6 mutations cause myopia and deafness in humans and mice.
Drosophila 1063R-2 Predicting novel candidate human obesity genes and their site of action by systematic functional screening in Drosophila.
Human and Animal Cells OP9(RCB1124) Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies.
Human and Animal Cells 293(RCB1637) Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels.
Zebrafish Tg(cmlc2:mRFP)ko07 Gap junction protein beta 4 plays an important role in cardiac function in humans, rodents, and zebrafish.
Zebrafish Tg(TRPC24.5k :gap-Venus)rw037Tg , Tg(OMP2k :gap-CFP)rw034 Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.
Human and Animal Cells 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.
Human and Animal Cells HCT116(RCB2979) Predominant cellular mitochondrial dysfunction in the TOP3A gene-caused Bloom syndrome-like disorder.
Human and Animal Cells P19.CL6(RCB1539) RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis.
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 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.