Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
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Mutation analysis of LMX1B gene in nail-patella syndrome patientsThe TES gene at 7q31.1 is methylated in tumours and encodes a novel growth-suppressing LIM domain proteinMutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromeZHX proteins regulate podocyte gene expression during the development of nephrotic syndromeMutations in the human TBX4 gene cause small patella syndrome.Lmx1b is essential for survival of periocular mesenchymal cells and influences Fgf-mediated retinal patterning in zebrafishA 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 glaucomaIn vivo expression of putative LMX1B targets in nail-patella syndrome kidneysMitochondria: A Therapeutic Target for Parkinson's Disease?Opportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic EraGenetic causes of focal segmental glomerulosclerosis: implications for clinical practiceCell biology and pathology of podocytesGeneration of Pet1210-Cre transgenic mouse line reveals non-serotonergic expression domains of Pet1 both in CNS and peripheryThe homeodomain coordinates nuclear entry of the Lhx3 neuroendocrine transcription factor and association with the nuclear matrixInsight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytesThe transcriptional regulation of podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphismGenotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathyIdentification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in manThe aetiology of idiopathic Parkinson's diseaseFrizzled6 deficiency disrupts the differentiation process of nail developmentLarge-scale identification of genes implicated in kidney glomerulus development and function.Lmx1b is required for murine trabecular meshwork formation and for maintenance of corneal transparencyHand and foot abnormalities associated with genetic diseasesHemovascular Progenitors in the Kidney Require Sphingosine-1-Phosphate Receptor 1 for Vascular Development.LMX1B is essential for the maintenance of differentiated podocytes in adult kidneys.MMDB: 3D structure data in Entrez.Power of multifactor dimensionality reduction and penalized logistic regression for detecting gene-gene interaction in a case-control study.The glomerular transcriptome and a predicted protein-protein interaction network.Phenotypic expansion of DGKE-associated diseasesTranscription factors in dysmorphology.Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.The malformed kidney: disruption of glomerular and tubular development.Genetic disorders of the skeleton: a developmental approachMolecular evolution of the homeodomain family of transcription factorsHereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.The glomerulus--a view from the outside--the podocyte.Glaucoma: genes, phenotypes, and new directions for therapy.Global gene expression analysis of murine limb developmentMeier-Gorlin syndrome: report of eight additional cases and review.
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P2860
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
description
1998 nî lūn-bûn
@nan
1998 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Mutations in LMX1B cause abnor ...... lasia in nail patella syndrome
@ast
Mutations in LMX1B cause abnor ...... lasia in nail patella syndrome
@en
Mutations in LMX1B cause abnor ...... lasia in nail patella syndrome
@en-gb
Mutations in LMX1B cause abnor ...... lasia in nail patella syndrome
@nl
type
label
Mutations in LMX1B cause abnor ...... lasia in nail patella syndrome
@ast
Mutations in LMX1B cause abnor ...... lasia in nail patella syndrome
@en
Mutations in LMX1B cause abnor ...... lasia in nail patella syndrome
@en-gb
Mutations in LMX1B cause abnor ...... lasia in nail patella syndrome
@nl
prefLabel
Mutations in LMX1B cause abnor ...... lasia in nail patella syndrome
@ast
Mutations in LMX1B cause abnor ...... lasia in nail patella syndrome
@en
Mutations in LMX1B cause abnor ...... lasia in nail patella syndrome
@en-gb
Mutations in LMX1B cause abnor ...... lasia in nail patella syndrome
@nl
P2093
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Mutations in LMX1B cause abnor ...... lasia in nail patella syndrome
@en
P2093
A Winterpacht
R L Johnson
S D Dreyer
P2860
P2888
P3181
P356
10.1038/NG0598-47
P407
P577
1998-05-01T00:00:00Z
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P6179
1029663976