Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes
about
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)Liver and kidney disease in ciliopathiesCC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndromeAn ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.Clinical and molecular features of Joubert syndrome and related disorders.A Challenging Case of Hepatoblastoma Concomitant with Autosomal Recessive Polycystic Kidney Disease and Caroli Syndrome-Review of the Literature.The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.The intraflagellar transport protein ift80 is essential for photoreceptor survival in a zebrafish model of jeune asphyxiating thoracic dystrophyCiliopathies: an expanding disease spectrum.Proliferation-Independent Initiation of Biliary Cysts in Polycystic Liver Diseases.Acceleration of the meckel syndrome by near-infrared light therapy.Immunohistochemical detection of polyductin and co-localization with liver progenitor cell markers during normal and abnormal development of the intrahepatic biliary system and in adult hepatobiliary carcinomas.Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathiesUnraveling the pathogenesis and etiology of biliary atresia.Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.Polycystic liver and kidney diseases.Proceedings of the 2013 Joint JSTP/NTP Satellite Symposium.Cholangiociliopathies: genetics, molecular mechanisms and potential therapiesDiagnosis and management of childhood polycystic kidney disease.An approach to cystic kidney diseases: the clinician's view.Hepatorenal fibrocystic diseases in children.BBS4 directly affects proliferation and differentiation of adipocytes.Severe infantile carnitine palmitoyltransferase II deficiency in 19-week fetal sibs.Mechanism of pancreatic and liver malformations in human fetuses with short-rib polydactyly syndrome.Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients
P2860
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P2860
Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes
description
2003 nî lūn-bûn
@nan
2003 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes
@ast
Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes
@en
type
label
Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes
@ast
Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes
@en
prefLabel
Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes
@ast
Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes
@en
P2093
P2860
P356
P1476
Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes
@en
P2093
P2860
P304
P356
10.1136/JMG.40.5.311
P407
P577
2003-05-01T00:00:00Z