about
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathwaysThe Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formationAssignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25.Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndromeThe nonmotile ciliopathies.Reduction of meckelin leads to general loss of cilia, ciliary microtubule misalignment and distorted cell surface organization.Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.Fetal renal anomalies and genetic syndromes.The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT)Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromesCilia and DiseasesMeckel-Gruber syndrome: Report of two cases.Contribution of apoptosis and apoptosis-related proteins to the malformation of the primitive intrahepatic biliary system in Meckel syndrome.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.Congenital malformations in perinatal autopsies - a study of 100 casesA mouse model for Meckel syndrome type 3.Meckel Gruber syndrome: report of two cases with review of literature.Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.Ciliopathies: Genetics in Pediatric Medicine.Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.DDA: A Novel Network-Based Scoring Method to Identify Disease-Disease Associations.TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.Concordant occipital encephalocele in monoamniotic twins.A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.Liver fibrocystic disease and polydactyly: proposal of a new syndrome.The First Reported Case of Meckel-Gruber Syndrome Associated With Abnormal Karyotype Mosaic Trisomy 17.
P2860
Q24302034-8DB61934-E00F-4992-804E-92A4B110D4B1Q24337819-3A570BDB-5C62-4F06-A452-510149BD9348Q24539181-7A25D176-1A95-47F4-BCCC-870519ADB4DEQ24609805-57ECCE1D-F878-4DA7-B20D-4C200A8E6FE1Q24622660-6DA34857-EE6B-4298-A441-D0B240FD5DCFQ27967648-29480B87-30DE-4DC3-A469-D868AC54C74CQ30586039-626DA932-9BF7-470D-A5AC-4743B9DC8717Q34054602-30FDE33E-CC72-4A60-9F42-1A5E57DC954CQ34464556-E5EA438E-1E8F-4163-A60B-9C6264889311Q34485086-5E805746-423B-40C4-B732-534D4FF2F34BQ34699805-8965962A-8C90-4FA8-986C-7DFED192C495Q35127276-68D79A2C-66E6-4648-BAD2-C79D8436F238Q35571167-961CA932-AB9B-4E29-B826-BEB283611862Q35733050-56AE8260-5FD7-47B6-8658-538FF5E945F3Q35810144-E63DC25B-5120-4502-A399-CABFB9326E50Q35832090-567270B3-9C4F-47DE-A0AF-209CEA600605Q36554144-9370565E-A139-4D60-9E66-0908A9A6F134Q37146423-A8AABACC-3848-4334-A702-D4C17A235790Q37487385-8D8E2D6B-E6AA-409A-9802-332A1C8D5C23Q37530115-84572BFA-754A-4AB4-8878-36193A6377DDQ38759596-85678D55-7AC3-4751-ACD6-5140B4C5B5DCQ41154858-12A21CB5-CE55-44C0-805E-8DBC916CF95AQ43137540-3093937C-C370-4AE2-9CC7-86DFE831123EQ45038715-3CACD082-FE5B-4645-B9AC-FDDFF45EABE2Q47160334-A26C9224-2D7C-479F-B37E-048CBB1F0B2FQ47586693-876A4B72-25DE-4691-BD40-DD177938789DQ51874264-A212439A-6541-4353-9AC8-1A25726AFC0DQ51966959-068916F6-140D-40DF-BC0A-FA7A32891F0BQ53109617-E58B882D-945A-489E-B2F3-23BD381B3BE6
P2860
description
1998 nî lūn-bûn
@nan
1998 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հունիսին 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
Meckel syndrome
@ast
Meckel syndrome
@en
type
label
Meckel syndrome
@ast
Meckel syndrome
@en
prefLabel
Meckel syndrome
@ast
Meckel syndrome
@en
P2860
P356
P1476
Meckel syndrome
@en
P2093
P2860
P304
P356
10.1136/JMG.35.6.497
P407
P577
1998-06-01T00:00:00Z