Genetic defects underlying Peutz-Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates.
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Loss of Par-1a/MARK3/C-TAK1 kinase leads to reduced adiposity, resistance to hepatic steatosis, and defective gluconeogenesis.Specific Alu elements involved in a significant percentage of copy number variations of the STK11 gene in patients with Peutz-Jeghers syndrome.Novel serine/threonine kinase 11 gene mutations in Peutz-Jeghers syndrome patients and endoscopic managementPeutz-Jeghers syndrome: diagnostic and therapeutic approach.LKB1 and AMPK family signaling: the intimate link between cell polarity and energy metabolism.Microtubule affinity-regulating kinase 4: structure, function, and regulation.Extra-ampullary Peutz-Jeghers polyp causing duodenal intussusception leading to biliary obstruction: a case report.Identification of molecular alterations in gastrointestinal carcinomas and dysplastic hamartomas in Peutz-Jeghers syndrome.Large deletions and splicing-site mutations in the STK11 gene in Peutz-Jeghers Chilean families.Gastrointestinal diseases and their oro-dental manifestations: Part 4: Peutz-Jeghers syndrome.First report of somatic mosaicism for mutations in STK11 in four patients with Peutz-Jeghers syndrome.Analysis of LKB1 mutations and other molecular alterations in pancreatic acinar cell carcinoma.Exome sequencing revealed novel germline mutations in Chinese Peutz-Jeghers syndrome patients.Genome-wide surveys reveal polarity and cytoskeletal regulators mediate LKB1-associated germline stem cell quiescence.Must Peutz-Jeghers syndrome patients have the gene mutation? A case report and review of the literature
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P2860
Genetic defects underlying Peutz-Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
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scientific article published on 09 October 2007
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Genetic defects underlying Peu ...... y as potential PJS candidates.
@en
Genetic defects underlying Peutz-Jeghers syndrome
@nl
type
label
Genetic defects underlying Peu ...... y as potential PJS candidates.
@en
Genetic defects underlying Peutz-Jeghers syndrome
@nl
prefLabel
Genetic defects underlying Peu ...... y as potential PJS candidates.
@en
Genetic defects underlying Peutz-Jeghers syndrome
@nl
P2093
P2860
P1433
P1476
Genetic defects underlying Peu ...... y as potential PJS candidates.
@en
P2093
A N A Milne
A R Musler
C A Iacobuzio-Donahue
F M Giardiello
F W M de Rooij
G J A Offerhaus
J J Keller
M A J Weterman
P2860
P304
P356
10.1111/J.1399-0004.2007.00907.X
P577
2007-10-09T00:00:00Z