Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy
about
A synonymous genetic alteration of LMX1B in a family with nail-patella syndromeNovel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucomac.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucomaIdentification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in manHand and foot abnormalities associated with genetic diseasesDBA/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 familiesSteroid-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 syndromeLMX1B mutations cause hereditary FSGS without extrarenal involvementKidney disease in nail-patella syndromeDysregulation 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
P2860
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P2860
Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy
description
2005 nî lūn-bûn
@nan
2005 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Genotype-phenotype studies in ...... risk of developing nephropathy
@ast
Genotype-phenotype studies in ...... risk of developing nephropathy
@en
Genotype-phenotype studies in ...... risk of developing nephropathy
@nl
type
label
Genotype-phenotype studies in ...... risk of developing nephropathy
@ast
Genotype-phenotype studies in ...... risk of developing nephropathy
@en
Genotype-phenotype studies in ...... risk of developing nephropathy
@nl
prefLabel
Genotype-phenotype studies in ...... risk of developing nephropathy
@ast
Genotype-phenotype studies in ...... risk of developing nephropathy
@en
Genotype-phenotype studies in ...... risk of developing nephropathy
@nl
P2093
P2860
P356
P1476
Genotype-phenotype studies in ...... risk of developing nephropathy
@en
P2093
Albert van Kampen
Angela M F van Remortele
Elena Levtchenko
Ernie M H F Bongers
Frans T Huysmans
George F Borm
Jacky W de Rooy
Jeroen Schoots
Johan G Blickman
Johannes R M Cruysberg
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5201446
P407
P577
2005-08-01T00:00:00Z