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B3GALTL beta 1,3-galactosyltransferase-like [ Homo sapiens (human) ]

Gene ID: 145173, updated on 11-Sep-2014

GeneRIFs: Gene References Into Functions

GeneRIFPubMed TitleDate
a novel c.597-2 A>G splicing mutation within the B3GALTL gene in typical Peters-plus syndrome

First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome.
Ben Mahmoud A, Siala O, Mansour RB, Driss F, Baklouti-Gargouri S, Mkaouar-Rebai E, Belguith N, Fakhfakh F.

12/28/2013
A novel homozygous c.597-2A>G mutation was identified in both patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene

Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure.
Siala O, Belguith N, Kammoun H, Kammoun B, Hmida N, Chabchoub I, Hchicha M, Fakhfakh F.

11/17/2012
Vertebral defects in a patient with Peters plus syndrome and mutations in B3GALTL.

Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL.
Faletra F, Athanasakis E, Minen F, Fornasier F, Marchetti F, Gasparini P.

01/14/2012
The present report confirms the wide clinical spectrum of Peters plus syndrome, underlines the major clinical criteria of the syndrome and the major implication of B3GALTL gene in this condition.

A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly.
Aliferis K, Marsal C, Pelletier V, Doray B, Weiss MM, Tops CM, Speeg-Schatz C, Lesnik SA, Dollfus H.

01/22/2011
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article

06/30/2010
Novel B3GALTL mutation in Peters-plus Syndrome

Novel B3GALTL mutation in Peters-plus Syndrome.
Dassie-Ajdid J, Causse A, Poidvin A, Granier M, Kaplan J, Burglen L, Doummar D, Teisseire P, Vigouroux A, Malecaze F, Calvas P, Chassaing N.

03/1/2010
two new mutant alleles, c.459 + 1G > A and c.230insT, were identified and predicted to result in truncated protein products; data confirm an important role for B3GALTL in causing typical Peters Plus syndrome

Mutation analysis of B3GALTL in Peters Plus syndrome.
Reis LM, Tyler RC, Abdul-Rahman O, Trapane P, Wallerstein R, Broome D, Hoffman J, Khan A, Paradiso C, Ron N, Bergner A, Semina EV., Free PMC Article

01/21/2010
Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.(

Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.
Hess D, Keusch JJ, Oberstein SA, Hennekam RC, Hofsteenge J.

01/21/2010
Biallelic truncating mutations in the beta 1,3-galactosyltransferase-like gene (B3GALTL) in all 20 tested patients, showed that Peters Plus is a monogenic, primarily single-mutation syndrome.

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.
Lesnik Oberstein SA, Kriek M, White SJ, Kalf ME, Szuhai K, den Dunnen JT, Breuning MH, Hennekam RC., Free PMC Article

01/21/2010
B3GTL is transcribed in a wide range of tissues and has conserved domains and motifs

A novel human glycosyltransferase: primary structure and characterization of the gene and transcripts.
Heinonen TY, Pasternack L, Lindfors K, Breton C, Gastinel LN, Mäki M, Kainulainen H.

01/21/2010
We report here the molecular cloning and characterization of a novel beta1,3-glucosyltransferase (beta3Glc-T) that synthesizes a Glcbeta1,3Fucalpha- structure on the TSR domain.

Molecular cloning and characterization of a novel human beta1,3-glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain.
Sato T, Sato M, Kiyohara K, Sogabe M, Shikanai T, Kikuchi N, Togayachi A, Ishida H, Ito H, Kameyama A, Gotoh M, Narimatsu H.

01/21/2010
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