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  • 1-10 ل  13 نتائج ل ""2716 Genetics (clinical)""

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Publication : human molecular genetics
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A variant inMRPS14(uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement

Subjects: Ribosomal Proteins; 2716 Genetics (clinical); Mitochondrial Diseases

  • Source: Human Molecular GeneticsHuman Molecular Genetics, Oxford University Press (OUP), 2019, 28 (4), pp.639-649.

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OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease

Subjects: Phosphatidylinositol 4,5-Diphosphate; 0301 basic medicine; 10017 Institute of Anatomy

  • Source: Human Molecular Genetics, 28 (12)Human Molecular GeneticsHum Mol Genet

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A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma

Subjects: 10018 Ophthalmology Clinic; Male; 0301 basic medicine

  • Source: Liu, C, Widen, S, Williamson, K, Ratnapriya, R, Gerth-Kahlert, C, Rainger, J, Alur, R, Strachan, E, Manjanath, S, Balakrishnan, A, Floyd, J, Li, T, Waskiewicz, A, Brooks, B, Lehmann, O J &

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Norrin stimulates cell proliferation in the superficial retinal vascular plexus and is pivotal for the recruitment of mural cells

Subjects: 2716 Genetics (clinical); Receptor complex; FZD4

  • Source: Human Molecular Genetics. 21:2619-2630

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Dysregulation of Rho GTPases in the alphaPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits

Subjects: rho GTP-Binding Proteins; 2716 Genetics (clinical); RHOA

  • Source: Human Molecular Genetics, 21, 268-286. Oxford University PressHuman Molecular Genetics, 21 (2)Human

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Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism

Subjects: 2716 Genetics (clinical); Cytoplasm; Blotting, Western

  • Source: Human molecular genetics

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Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training

Subjects: Male; INVOLVEMENT; 2716 Genetics (clinical)

  • Source: Human Molecular Genetics. 18:105-117

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R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal

Subjects: cis-trans-Isomerases; 10018 Ophthalmology Clinic; Retinal degeneration

  • Source: Human Molecular Genetics. 17:281-292

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IL3 variant on chromosomal region 5q31-33 and protection from recurrent malaria attacks

Subjects: Male; 2716 Genetics (clinical); 10216 Institute of Anesthesiology

  • Source: Human molecular genetics. 20(6)

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Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo

Subjects: 2716 Genetics (clinical); Protein Folding; Phenylalanine hydroxylase

  • Source: Human molecular genetics. 19(10)

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  • 1-10 ل  13 نتائج ل ""2716 Genetics (clinical)""