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Pregled bibliografske jedinice broj: 411295

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement


Brancati, F.; Iannicelli, M.; Travaglini, L.; Mazzotta, A.; Bertini, E.; Boltshauser, E.; D'Arrigo, S.; Emma, F.; Fazzi, E.; Gallizzi, R. et al.
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement // Human mutation, 30 (2009), 2; E432-E442 doi:10.1002/humu.20924 (međunarodna recenzija, članak, znanstveni)


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Naslov
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement

Autori
Brancati, F. ; Iannicelli, M. ; Travaglini, L. ; Mazzotta, A. ; Bertini, E. ; Boltshauser, E. ; D'Arrigo, S. ; Emma, F. ; Fazzi, E. ; Gallizzi, R. ; Gentile, M ; Lončarević, Damir ; Mejaški-Bošnjak, Vlatka ; Pantaleoni, C. ; Rigoli, L. ; Salpietro, C.D. ; Signorini, S. ; Stringini, G.R. ; Verloes, A. ; Zabloka, D. ; Dallapiccola, B. ; Gleeson, J.G. ; Valente, E.M.

Izvornik
Human mutation (1059-7794) 30 (2009), 2; E432-E442

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
MKS3/TMEM67 mutation; COACH Syndrome; Joubert syndrome

Sažetak
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement. The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert Syndrome (JS) and Related Disorders (JSRDs). The main feature of COACH is congenital hepatic fibrosis (CHF), resulting from malformation of the embryonic ductal plate. CHF is invariably found also in Meckel syndrome (MS), a lethal ciliopathy already found to be allelic with JSRDs at the CEP290 and RPGRIP1L genes. Recently, mutations in the MKS3 gene (approved symbol TMEM67), causative of about 7% MS cases, have been detected in few Meckel-like and pure JS patients. Analysis of MKS3 in 14 COACH families identified mutations in 8 (57%). Features such as colobomas and nephronophthisis were found only in a subset of mutated cases. These data confirm COACH as a distinct JSRD subgroup with core features of JS plus CHF, which major gene is MKS3, and further strengthen gene-phenotype correlates in JSRDs.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA


Projekti:
072-1081870-0025 - Neurorazvojni ishod djece s intrauterinim zastojem rasta i/ili hipoksijom (Mejaški-Bošnjak, Vlatka, MZOS ) ( POIROT)

Ustanove:
Klinika za dječje bolesti Medicinskog fakulteta

Citiraj ovu publikaciju

Brancati, F.; Iannicelli, M.; Travaglini, L.; Mazzotta, A.; Bertini, E.; Boltshauser, E.; D'Arrigo, S.; Emma, F.; Fazzi, E.; Gallizzi, R. et al.
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement // Human mutation, 30 (2009), 2; E432-E442 doi:10.1002/humu.20924 (međunarodna recenzija, članak, znanstveni)
Brancati, F., Iannicelli, M., Travaglini, L., Mazzotta, A., Bertini, E., Boltshauser, E., D'Arrigo, S., Emma, F., Fazzi, E. & Gallizzi, R. (2009) MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement. Human mutation, 30 (2), E432-E442 doi:10.1002/humu.20924.
@article{article, year = {2009}, pages = {E432-E442}, DOI = {10.1002/humu.20924}, keywords = {MKS3/TMEM67 mutation, COACH Syndrome, Joubert syndrome}, journal = {Human mutation}, doi = {10.1002/humu.20924}, volume = {30}, number = {2}, issn = {1059-7794}, title = {MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement}, keyword = {MKS3/TMEM67 mutation, COACH Syndrome, Joubert syndrome} }
@article{article, year = {2009}, pages = {E432-E442}, DOI = {10.1002/humu.20924}, keywords = {MKS3/TMEM67 mutation, COACH Syndrome, Joubert syndrome}, journal = {Human mutation}, doi = {10.1002/humu.20924}, volume = {30}, number = {2}, issn = {1059-7794}, title = {MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement}, keyword = {MKS3/TMEM67 mutation, COACH Syndrome, Joubert syndrome} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE


Uključenost u ostale bibliografske baze podataka:


  • AGRICOLA
  • EMBASE (Excerpta Medica)
  • MEDLINE
  • Scopus


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