Use my Search Websuite to scan PubMed, PMCentral, Journal Hosts and Journal Archives, FullText.
Kick-your-searchterm to multiple Engines kick-your-query now !>
A dictionary by aggregated review articles of nephrology, medicine and the life sciences
Your one-stop-run pathway from word to the immediate pdf of peer-reviewed on-topic knowledge.

suck abstract from ncbi


10.1002/humu.21239

http://scihub22266oqcxt.onion/10.1002/humu.21239
suck pdf from google scholar
20232449!2918781!20232449
unlimited free pdf from europmc20232449    free
PDF from PMC    free
html from PMC    free
PDF vom PMID20232449  :  Publisher
PDF vom PMID20232449

suck abstract from ncbi

pmid20232449
Nephropedia Template TP

gab.com Text

Twit Text FOAVip

Twit Text #

English Wikipedia


  • Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies #MMPMID20232449
  • Iannicelli M; Brancati F; Mougou-Zerelli S; Mazzotta A; Thomas S; Elkhartoufi N; Travaglini L; Gomes C; Ardissino GL; Bertini E; Boltshauser E; Castorina P; D'Arrigo S; Fischetto R; Leroy B; Loget P; Bonniere M; Starck L; Tantau J; Gentilin B; Majore S; Swistun D; Flori E; Lalatta F; Pantaleoni C; Penzien J; Grammatico P; Dallapiccola B; Gleeson JG; Attie-Bitach T; Valente EM
  • Hum Mutat 2010[May]; 31 (5): E1319-31 PMID20232449show ga
  • Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genetic overlap, being allelic at several loci. One of the most interesting gene is TMEM67, encoding the transmembrane protein meckelin. We performed mutation analysis of TMEM67 in 341 probands, including 265 JSRD representative of all clinical subgroups and 76 MKS fetuses. We identified 33 distinct mutations, of which 20 were novel, in 8/10 (80%) JS with liver involvement (COACH phenotype) and 12/76 (16%) MKS fetuses. No mutations were found in other JSRD subtypes, confirming the strong association between TMEM67 mutations and liver involvement. Literature review of all published TMEM67 mutated cases was performed to delineate genotype-phenotype correlates. In particular, comparison of the types of mutations and their distribution along the gene in lethal versus non lethal phenotypes showed in MKS patients a significant enrichment of missense mutations falling in TMEM67 exons 8 to 15, especially when in combination with a truncating mutation. These exons encode for a region of unknown function in the extracellular domain of meckelin.
  • |Abnormalities, Multiple/*genetics[MESH]
  • |DNA Mutational Analysis[MESH]
  • |Female[MESH]
  • |Genotype[MESH]
  • |Humans[MESH]
  • |Kidney Diseases, Cystic/*genetics/pathology[MESH]
  • |Liver Cirrhosis/*genetics/pathology[MESH]
  • |Membrane Proteins/*genetics[MESH]
  • |Mutation/*genetics[MESH]
  • |Phenotype[MESH]
  • |Pregnancy[MESH]
  • |Prenatal Diagnosis[MESH]


  • DeepDyve
  • Pubget Overpricing
  • suck abstract from ncbi

    E1319 5.31 2010