Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy - Wikidata - wikimedia - TriplyDB

Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

http://www.wikidata.org/entity/Q28253929

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A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man Hand and foot abnormalities associated with genetic diseases DBA/2J mice are susceptible to diabetic nephropathy and diabetic exacerbation of IOP elevation.Arthropathy and proteinuria: nail-patella syndrome revisited.A microdeletion of chromosome 9q33.3 encompasses the entire LMX1B gene in a Chinese family with nail patella syndrome.A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.Nail-patella syndrome and its association with glaucoma: a review of eight families Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.Clinico-genetic study of nail-patella syndrome LMX1B mutations cause hereditary FSGS without extrarenal involvement Kidney disease in nail-patella syndrome Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation.Glomerular diseases: genetic causes and future therapeutics.Update on pediatric glaucoma.Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing.Cell fate determination, neuronal maintenance and disease state: The emerging role of transcription factors Lmx1a and Lmx1b.The expanding phenotypic spectra of kidney diseases: insights from genetic studies.Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.LIM homeobox transcription factor 1B is associated with pro-fibrotic components and apoptosis in hypoxia/reoxygenation renal tubular epithelial cells.Nail-patella syndrome-a novel mutation in the LMX1B gene.A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.An expanding universe of FSGS genes and phenotypes: LMX1B mutations cause familial autosomal dominant FSGS lacking extrarenal manifestations.LIM homeobox transcription factor 1B expression affects renal interstitial fibrosis and apoptosis in unilateral ureteral obstructed rats.Basement Membrane Defects in Genetic Kidney Diseases.Biochemical properties of the recurrent LMX1b truncated mutant carried in a Taiwanese family with nail-patella syndrome.Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation.Nail-patella syndrome: report of 11 pediatric cases.Nail-Patella Syndrome: A Rare Cause of Nephrotic Syndrome in Pregnancy.Nail-Patella Syndrome: A Report of a Saudi Arab Family With an Autosomal Recessive Inheritance.Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

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Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

http://www.wikidata.org/entity/Q28253929

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2005 nî lūn-bûn

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P2860

Mutation analysis of LMX1B gene in nail-patella syndrome patients

Seventh Report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome

In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys

The human LMX1B gene: transcription unit, promoter, and pathogenic mutations

Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome

Lmx1b is essential for the development of serotonergic neurons

Lmx1b controls the differentiation and migration of the superficial dorsal horn neurons of the spinal cord

Prediction of creatinine clearance from serum creatinine

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