Mutation analysis of LMX1B gene in nail-patella syndrome patients - Test2 - elhamkhani - TriplyDB

Mutation analysis of LMX1B gene in nail-patella syndrome patients

Mutation analysis of LMX1B gene in nail-patella syndrome patients

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Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys Generation of Pet1210-Cre transgenic mouse line reveals non-serotonergic expression domains of Pet1 both in CNS and periphery Insight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytes Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome The aetiology of idiopathic Parkinson's disease LMX1B is essential for the maintenance of differentiated podocytes in adult kidneys.Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome.Genetic testing in steroid-resistant nephrotic syndrome: when and how?Phenotypic analysis of Dlx5 overexpression in post-natal bone.The glomerulus--a view from the outside--the podocyte.The homeodomain transcription factor PITX2 is required for specifying correct cell fates and establishing angiogenic privilege in the developing cornea Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22 Missense mutations of human homeoboxes: A review.Exploring the genetic basis of early-onset chronic kidney disease.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.The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes.Nail patella syndrome: a review of the phenotype aided by developmental biology 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 Homeodomain revisited: a lesson from disease-causing mutations.Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.Increased symptoms of attention deficit hyperactivity disorder and major depressive disorder symptoms in Nail-patella syndrome: potential association with LMX1B loss-of-function LMX1B mutations cause hereditary FSGS without extrarenal involvement Kidney disease in nail-patella syndrome Signaling "cross-talk" is integrated by transcription factors in the development of the anterior segment in the eye.Identification of Pax3 and Zic1 targets in the developing neural crest.Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.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'.Nail-patella-syndrome in a young patient followed up over 10 years: relevance of the sagittal trochlear septum for patellofemoral pathology.Identification of genes expressed preferentially in the developing peripheral margin of the optic cup.How are podocytes affected in nail-patella syndrome?Nail patella syndrome revisited: 50 years after linkage.Biochemical properties of the recurrent LMX1b truncated mutant carried in a Taiwanese family with nail-patella syndrome.Management of patellar problems in skeletally mature patients with nail-patella syndrome.

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Mutation analysis of LMX1B gene in nail-patella syndrome patients

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1998 nî lūn-bûn

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1998 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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1998 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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1998年の論文

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1998年論文

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1998年論文

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1998年論文

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1998年論文

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1998年論文

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1998年论文

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Mutation analysis of LMX1B gene in nail-patella syndrome patients

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Mutation analysis of LMX1B gene in nail-patella syndrome patients

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Mutation analysis of LMX1B gene in nail-patella syndrome patients

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Mutation analysis of LMX1B gene in nail-patella syndrome patients

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Mutation analysis of LMX1B gene in nail-patella syndrome patients

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Mutation analysis of LMX1B gene in nail-patella syndrome patients

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Mutation analysis of LMX1B gene in nail-patella syndrome patients

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Mutation analysis of LMX1B gene in nail-patella syndrome patients

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Mutation analysis of LMX1B gene in nail-patella syndrome patients

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Mutation analysis of LMX1B gene in nail-patella syndrome patients

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Mutation analysis of LMX1B gene in nail-patella syndrome patients

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Mutation analysis of LMX1B gene in nail-patella syndrome patients

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Mutation analysis of LMX1B gene in nail-patella syndrome patients

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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

Transcriptional synergy between LIM-homeodomain proteins and basic helix-loop-helix proteins: the LIM2 domain determines specificity

The des(1-6)antennapedia homeodomain: comparison of the NMR solution structure and the DNA-binding affinity with the intact Antennapedia homeodomain

Identification of a human LMX1 (LMX1.1)-related gene, LMX1.2: tissue-specific expression and linkage mapping on chromosome 9

Induction of the LIM homeobox gene Lmx1 by WNT7a establishes dorsoventral pattern in the vertebrate limb

The molecular basis of genetic dominance

Genetical linkage between the ABO and nail-patella loci.

When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

Achondroplasia is defined by recurrent G380R mutations of FGFR3

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multicellular organism development

LIM homeobox transcription factor 1 beta

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