Homozygous nonsense mutations in TWIST2 cause Setleis syndrome
about
Novel insights into the bovine polled phenotype and horn ontogenesis in BovidaeNonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostinThe emerging role of Twist proteins in hematopoietic cells and hematological malignanciesTwist1 Is Essential for Tooth Morphogenesis and Odontoblast DifferentiationLocalized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegansTwist1- and Twist2-haploinsufficiency results in reduced bone formation.A structural variant in the 5'-flanking region of the TWIST2 gene affects melanocyte development in belted cattleDiscordant gene expression signatures and related phenotypic differences in lamin A- and A/C-related Hutchinson-Gilford progeria syndrome (HGPS).Role of canonical Wnt signaling/ß-catenin via Dermo1 in cranial dermal cell development.Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1Redundant or separate entities?--roles of Twist1 and Twist2 as molecular switches during gene transcriptionA gene expression atlas of early craniofacial developmentRecurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say SyndromesEvolution of the Twist Subfamily Vertebrate Proteins: Discovery of a Signature Motif and Origin of the Twist1 Glycine-Rich Motifs in the Amino-Terminus Disordered Domain.Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutationPhenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4Twist2 contributes to cisplatin-resistance of ovarian cancer through the AKT/GSK-3β signaling pathway.From phenologs to silent suppressors: Identifying potential therapeutic targets for human disease.Genetically modified laboratory mice with sebaceous glands abnormalities.Regulation of p21 by TWIST2 contributes to its tumor-suppressor function in human acute myeloid leukemia.Defining the identity of mouse embryonic dermal fibroblasts.Barber-say syndrome: a confirmed case of TWIST2 gene mutationSpecific inactivation of Twist1 in the mandibular arch neural crest cells affects the development of the ramus and reveals interactions with hand2.Twist1 contributes to cranial bone initiation and dermal condensation by maintaining Wnt signaling responsiveness.Dermal fibroblast in cutaneous development and healing.Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients.Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance.Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III).A novel frameshift mutation in TWIST2 gene causing Setleis syndrome.
P2860
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P2860
Homozygous nonsense mutations in TWIST2 cause Setleis syndrome
description
2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2010
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im August 2010 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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vedecký článok (publikovaný 2010/08/13)
@sk
vědecký článek publikovaný v roce 2010
@cs
wetenschappelijk artikel (gepubliceerd op 2010/08/13)
@nl
наукова стаття, опублікована в серпні 2010
@uk
مقالة علمية (نشرت في 13-8-2010)
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name
Homozygous nonsense mutations in TWIST2 cause Setleis syndrome
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Homozygous nonsense mutations in TWIST2 cause Setleis syndrome
@en
Homozygous nonsense mutations in TWIST2 cause Setleis syndrome
@nl
type
label
Homozygous nonsense mutations in TWIST2 cause Setleis syndrome
@ast
Homozygous nonsense mutations in TWIST2 cause Setleis syndrome
@en
Homozygous nonsense mutations in TWIST2 cause Setleis syndrome
@nl
prefLabel
Homozygous nonsense mutations in TWIST2 cause Setleis syndrome
@ast
Homozygous nonsense mutations in TWIST2 cause Setleis syndrome
@en
Homozygous nonsense mutations in TWIST2 cause Setleis syndrome
@nl
P2093
P2860
P3181
P1476
Homozygous nonsense mutations in TWIST2 cause Setleis syndrome
@en
P2093
Carmen L Cadilla
Drazen Šošić
Eric N Olson
James A Richardson
Jose Casasnovas
Lihadh I Al-Gazali
Mónica Erazo
Robert J Desnick
Turgut Tukel
P2860
P304
P3181
P356
10.1016/J.AJHG.2010.07.009
P407
P577
2010-08-01T00:00:00Z