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The dynamic cilium in human diseasesTransfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines.Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division.A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.Mechanisms for human genomic rearrangementsPancreatic islet expression profiling in diabetes-prone C57BLKS/J mice reveals transcriptional differences contributed by DBA loci, including Plagl1 and NntUnraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level.Regulation of TGF-beta signalling by Fbxo11, the gene mutated in the Jeff otitis media mouse mutantmicroRNAs and genetic diseasesEmerging evidence of a link between the polycystins and the mTOR pathways.Welcome to PathoGenetics.Smad4 haploinsufficiency: a matter of dosage.High-efficiency Rosa26 knock-in vector construction for Cre-regulated overexpression and RNAiAbnormal autophagy, ubiquitination, inflammation and apoptosis are dependent upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VI.Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts.
P1433
Q21202039-027AD0B1-D8F3-43EB-9B0F-56A22AE8FFF6Q33382216-793FB674-19F9-43AE-A3C6-FA73EE869E6DQ33641779-57E73900-5B15-42F5-A877-C61DD0086C2CQ33698314-BBFBC9CE-A973-4F29-91CD-FE9930D3FAD5Q36975128-CDD01E46-37F8-4B42-BB7A-0CDBBAA108B5Q37097498-273224A5-66DA-43FE-AF4B-3890D779D0C9Q37202957-56390AC8-EF50-41BF-8509-18F84F123702Q37271710-E2D8AE34-8672-4A3E-B4F7-CA9105DB7E4FQ37424316-EB4F6742-FE23-423E-894B-EF9E7FEDADE0Q37432510-2DD58424-A992-4486-AA83-E907A5CF5C8BQ41939827-4248BE9A-3BF9-447A-97C9-208EEEF45F80Q41994842-162CF531-9EA0-421A-81CA-5D5C0FD394EFQ42147320-DF1E7CCE-A956-4E6B-A960-A52CE1164B65Q42176026-90EE05F9-C5EE-4F1F-9DA9-DC730D869B42Q43188193-534E6B5F-A4B5-4676-82B1-588A8C34CED2
P1433
description
journal
@en
revista científica
@es
rivista scientifica
@it
wetenschappelijk tijdschrift
@nl
wissenschaftliche Fachzeitschrift
@de
name
PathoGenetics
@ast
PathoGenetics
@en
PathoGenetics
@es
PathoGenetics
@nl
type
label
PathoGenetics
@ast
PathoGenetics
@en
PathoGenetics
@es
PathoGenetics
@nl
altLabel
Pathogenetics
@en
prefLabel
PathoGenetics
@ast
PathoGenetics
@en
PathoGenetics
@es
PathoGenetics
@nl
P3181
P1055
P1476
PathoGenetics
@en