Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome.
about
Carboxy terminal tail of polycystin-1 regulates localization of TSC2 to repress mTORCloning and characterization of a functional human homolog of Escherichia coli endonuclease IIIComprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 geneMutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlationNailing down a link between tuberin and renal cystsA polycystin-centric view of cyst formation and disease: the polycystins revisitedThe role of the cilium in normal and abnormal cell cycles: emphasis on renal cystic pathologiesSimilarities and differences in the subcellular localization of hamartin and tuberin in the kidneyAnalysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosisTuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus ConferenceAt the bottom of the differential diagnosis list: unusual causes of pediatric hypertensionHereditary genodermatoses with cancer predispositionMispolarization of desmosomal proteins and altered intercellular adhesion in autosomal dominant polycystic kidney disease.Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.A cross sectional study of renal involvement in tuberous sclerosis.Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease.Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.Determinants of renal disease variability in ADPKD.Diagnosis and screening of autosomal dominant polycystic kidney disease.Annotation: tuberous sclerosis.Glomerulocystic kidney diseaseMolecular diagnostics for autosomal dominant polycystic kidney diseaseMutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.Replication fork stalling and checkpoint activation by a PKD1 locus mirror repeat polypurine-polypyrimidine (Pu-Py) tract.Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.Molecular genetic basis of tuberous sclerosis complex: from bench to bedside.Abnormal giant cells in the cerebral lesions of tuberous sclerosis complex.Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish.Tuberous sclerosis complex with autosomal dominant polycystic kidney disease: a rare duo.Fibrosis and progression of autosomal dominant polycystic kidney disease (ADPKD).Renal manifestations of tuberous sclerosis among children: an Indian experience and review of the literature.Mutation detection in the repeated part of the PKD1 gene.Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approachMultiple causes of human kidney malformationsTargeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutationsDepletion of Amyloid Precursor Protein (APP) causes G0 arrest in non-small cell lung cancer (NSCLC) cells.Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2).Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated
P2860
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P2860
Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome.
description
1994 nî lūn-bûn
@nan
1994 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年学术文章
@wuu
1994年学术文章
@zh-cn
1994年学术文章
@zh-hans
1994年学术文章
@zh-my
1994年学术文章
@zh-sg
1994年學術文章
@yue
name
Deletion of the TSC2 and PKD1 ...... e--a contiguous gene syndrome.
@ast
Deletion of the TSC2 and PKD1 ...... e--a contiguous gene syndrome.
@en
Deletion of the TSC2 and PKD1 ...... e--a contiguous gene syndrome.
@nl
type
label
Deletion of the TSC2 and PKD1 ...... e--a contiguous gene syndrome.
@ast
Deletion of the TSC2 and PKD1 ...... e--a contiguous gene syndrome.
@en
Deletion of the TSC2 and PKD1 ...... e--a contiguous gene syndrome.
@nl
prefLabel
Deletion of the TSC2 and PKD1 ...... e--a contiguous gene syndrome.
@ast
Deletion of the TSC2 and PKD1 ...... e--a contiguous gene syndrome.
@en
Deletion of the TSC2 and PKD1 ...... e--a contiguous gene syndrome.
@nl
P2093
P2860
P356
P1433
P1476
Deletion of the TSC2 and PKD1 ...... e--a contiguous gene syndrome.
@en
P2093
Brook-Carter PT
Maheshwar MM
Sampson JR
Thompson P
P2860
P2888
P304
P356
10.1038/NG1294-328
P407
P577
1994-12-01T00:00:00Z
P6179
1046632698