PMID- 10429362
OWN - NLM
STAT- MEDLINE
DCOM- 19990916
LR  - 20161124
IS  - 1434-5161 (Print)
IS  - 1434-5161 (Linking)
VI  - 44
IP  - 4
DP  - 1999
TI  - Genetic alterations in the JAG1 gene in Japanese patients with Alagille syndrome.
PG  - 235-9
AB  - Alagille syndrome (AGS) is a congenital anomaly syndrome that affects liver, 
      heart, pulmonary artery, eyes, face, and skeleton. Recently, mutations of the 
      JAG1 gene, which encodes a ligand for the Notch receptor, have been identified in 
      AGS patients. We investigated the JAG1 gene for genetic alterations in eight 
      Japanese AGS patients, using fluorescence in situ hybridization (FISH), single 
      strand conformation polymorphism (SSCP) analysis, and direct sequencing. Subtle 
      genetic alterations were identified in six of the eight patients, including three 
      frameshift mutations, two splice donor mutations, and one nonsense mutation. All 
      alleles with identified mutations can be expected to produce non-functional 
      truncated proteins without a transmembrane domain. There was no apparent 
      correlation between the genotypes of the patients and their affected organs, 
      although the phenotypes of the patients with mutations at the splice donor site 
      were found to be less severe.
FAU - Onouchi, Y
AU  - Onouchi Y
AD  - Human Genome Center, University of Tokyo, Japan.
FAU - Kurahashi, H
AU  - Kurahashi H
FAU - Tajiri, H
AU  - Tajiri H
FAU - Ida, S
AU  - Ida S
FAU - Okada, S
AU  - Okada S
FAU - Nakamura, Y
AU  - Nakamura Y
LA  - eng
PT  - Journal Article
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
RN  - 0 (Calcium-Binding Proteins)
RN  - 0 (Intercellular Signaling Peptides and Proteins)
RN  - 0 (JAG1 protein, human)
RN  - 0 (Jagged-1 Protein)
RN  - 0 (Membrane Proteins)
RN  - 0 (Proteins)
RN  - 0 (Serrate-Jagged Proteins)
SB  - IM
MH  - Alagille Syndrome/*genetics
MH  - Base Sequence
MH  - Calcium-Binding Proteins
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intercellular Signaling Peptides and Proteins
MH  - Jagged-1 Protein
MH  - Japan
MH  - Male
MH  - Membrane Proteins
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Phenotype
MH  - Polymorphism, Single-Stranded Conformational
MH  - Proteins/*genetics
MH  - Serrate-Jagged Proteins
EDAT- 1999/08/03 00:00
MHDA- 1999/08/03 00:01
CRDT- 1999/08/03 00:00
PHST- 1999/08/03 00:00 [pubmed]
PHST- 1999/08/03 00:01 [medline]
PHST- 1999/08/03 00:00 [entrez]
AID - 10.1007/s100380050150 [doi]
PST - ppublish
SO  - J Hum Genet. 1999;44(4):235-9. doi: 10.1007/s100380050150.