PMID- 16930015
OWN - NLM
STAT- MEDLINE
DCOM- 20061221
LR  - 20161124
IS  - 1543-1894 (Print)
IS  - 1543-1894 (Linking)
VI  - 126
DP  - 2006
TI  - The cardiovascular manifestations of Alagille syndrome and JAGI mutations.
PG  - 217-31
AB  - Alagille syndrome is an autosomal-dominant disorder characterized by hepatic, 
      cardiac, ocular, skeletal, and facial abnormalities. The disease gene, Jaggedl 
      (JAG]), was identified by molecular analyses of chromosomal alterations involving 
      chromosome 20p. Total gene deletions (3-7%) and intragenic mutations (70%) of 
      JAG] have been identified in Alagille patients. Identifying JAG] mutations is 
      challenging, given its size of 26 exons. Methods to identify both whole-gene 
      deletions and intragenic mutations of JAG] are described in detail, including 
      fluorescence in situ hybridization (FISH), conformation-sensitive gel 
      electrophoresis (CSGE), and complementary DNA (cDNA) sequencing.
FAU - Goldmuntz, Elizabeth
AU  - Goldmuntz E
AD  - The Division of Cardiology, Abramson Research Center, The Children's Hospital of 
      Philadelphia, Philadelphia, PA, USA.
FAU - Moore, Elizabeth
AU  - Moore E
FAU - Spinner, Nancy B
AU  - Spinner NB
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Methods Mol Med
JT  - Methods in molecular medicine
JID - 101123138
RN  - 0 (Calcium-Binding Proteins)
RN  - 0 (Intercellular Signaling Peptides and Proteins)
RN  - 0 (Membrane Proteins)
RN  - 0 (Serrate-Jagged Proteins)
SB  - IM
MH  - Alagille Syndrome/*genetics/*physiopathology
MH  - Calcium-Binding Proteins/*genetics
MH  - Cardiovascular System/*physiopathology
MH  - DNA Mutational Analysis/*methods
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intercellular Signaling Peptides and Proteins/*genetics
MH  - Membrane Proteins/*genetics
MH  - Metaphase
MH  - Mutation/*genetics
MH  - Nucleic Acid Conformation
MH  - Serrate-Jagged Proteins
EDAT- 2006/08/26 09:00
MHDA- 2006/12/22 09:00
CRDT- 2006/08/26 09:00
PHST- 2006/08/26 09:00 [pubmed]
PHST- 2006/12/22 09:00 [medline]
PHST- 2006/08/26 09:00 [entrez]
AID - 10.1385/1-59745-088-X:217 [doi]
PST - ppublish
SO  - Methods Mol Med. 2006;126:217-31. doi: 10.1385/1-59745-088-X:217.