About: Homozygous nonsense mutations in TWIST2 cause Setleis syndrome

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scientific journal article

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rdf:type	Item
description	artículu científicu espublizáu en 2010 (ast) vědecký článek publikovaný v roce 2010 (cs) наукова стаття, опублікована в серпні 2010 (uk) 2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած (hyw) 2010 թվականի օգոստոսին հրատարակված գիտական հոդված (hy) wetenschappelijk artikel (gepubliceerd op 2010/08/13) (nl) vedecký článok (publikovaný 2010/08/13) (sk) مقالة علمية (نشرت في 13-8-2010) (ar) scientific journal article (en) im August 2010 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q28594972-E4FB31DD-BDA7-4F5B-8B09-DA3F654E7BDD
publication date	2010-08-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q28594972-4036E208-50BB-473D-BD10-1B0577495B6F
language of work or name	English
cites work	wds:Q28594972-02EFC9F2-0E23-4430-A0CE-D77BF00070A6 wds:Q28594972-08A0CE90-94CD-4736-8C80-C0501B4D8442 wds:Q28594972-26885419-913C-464D-A178-48D920775CD4 wds:Q28594972-277DC7E8-4512-405A-AED1-4A360780E7F6 wds:Q28594972-277F0B19-E3F4-479B-BE30-35BB134F0399 wds:Q28594972-34F229FE-EE76-4FE9-9443-DDC8553FF749 wds:Q28594972-35DFA5C6-E6C9-433F-B7EB-44A17B588FCF wds:Q28594972-3A1102D4-D3A9-47A5-99FD-309E9FDE10B2 wds:Q28594972-40B7A75E-2C24-4C31-8C63-4EA2B9FCA241 wds:Q28594972-5EB4BB23-3677-42E9-A5DD-0BA12CD016A4 wds:Q28594972-66E532AB-8451-410B-8FEC-F6686096F142 wds:Q28594972-6B1755DB-31DC-450F-ACC6-75592C9D9ABA wds:Q28594972-7233D7A2-19C9-4505-AE59-699DC1290F49 wds:Q28594972-7AC632DA-C417-41CB-858B-82A779154892 wds:Q28594972-8886E035-EBFA-43F9-A6BB-6EA8685AF8FE wds:Q28594972-8DD88C39-D512-4890-9D04-4B2484A83AFB wds:Q28594972-8FC6A20C-92C1-4B48-8DFE-1CE1BEDF3D32 wds:Q28594972-9A48834E-FB8A-4566-8F51-3F2FA8818AD2 wds:Q28594972-AB8AD2B8-D128-4E3D-AC1D-CF79ED599390 wds:Q28594972-B2545C2B-EB7B-4170-BA11-0E1D371A9F3D wds:Q28594972-CB27729A-3E01-438D-B44E-E87DDDC88BC3 wds:Q28594972-D5535F4A-505A-43B4-8CAB-6CDCAF751FA8 wds:Q28594972-DCC6DC2A-BB8E-4FE1-8215-8915D617399F wds:Q28594972-EBAAB7AE-60B4-4A6D-B257-7AC179FD6EFB wds:Q28594972-F0C63341-F741-4E4C-955C-0D1B4320B6B1 wds:Q28594972-F22DCDC3-3792-443A-AAB7-E9ED00C17972
cites work	Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome Multipoint estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees Cell lineage in mammalian craniofacial mesenchyme. Evolution of the vertebrate twist family and synfunctionalization: a mechanism for differential gene loss through merging of expression domains. twist is required in head mesenchyme for cranial neural tube morphogenesis Dermo-1: a novel twist-related bHLH protein expressed in the developing dermis A twist code determines the onset of osteoblast differentiation Twist regulates cytokine gene expression through a negative feedback loop that represses NF-kappaB activity. The focal facial dermal dysplasias: report of a kindred and a proposed new classification Setleis syndrome: three new cases and a review of the literature Ocular surface tissue morphogenesis in normal and disease states revealed by genetically modified mice Autosomal recessive inheritance in the Setleis bitemporal 'forceps marks' syndrome Mutations of the mouse Twist and sy (fibrillin 2) genes induced by chemical mutagenesis of ES cells Absent meibomian glands in Setleis syndrome CONGENITAL ECTODERMAL DYSPLASIA OF THE FACE Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome). Focal facial dermal dysplasia: two familial cases Setleis syndrome: autosomal recessive or autosomal dominant inheritance? Autosomal dominant inheritance in Setleis syndrome Bitemporal aplasia cutis congenita Setleis bitemporal "forceps marks" syndrome and its pathogenesis: a case report Evidence for genetic homogeneity of Setleis' syndrome and focal facial dermal dysplasia Setleis (bitemporal 'forceps marks') syndrome in a German family: evidence for autosomal dominant inheritance Focal facial dermal dysplasia: Bitemporal lesions resembling aplasia cutis congenita Setleis ('bitemporal forceps marks') syndrome
author name string	wds:Q28594972-16DD204C-1CA0-4562-9893-E64D95318108 wds:Q28594972-1AC66508-AD80-4E5C-9B4B-73958AF1A185 wds:Q28594972-35A0C3C4-4012-4385-A883-A6B57E492DF6 wds:Q28594972-442E68E1-8A2D-4DD2-AFCF-25AD5FACFBBC wds:Q28594972-6BA2B84F-FEDF-43E7-B0C1-15D10AF44FC0 wds:Q28594972-9BAFE329-6E3F-4C15-BDD5-E5AA614C3ECD wds:Q28594972-C495E879-3EAE-4171-8CC2-F54EDB3B79F0 wds:Q28594972-E4BABB98-7468-441E-81D6-28739FF409A2
OpenCitations bibliographic resource ID	wds:Q28594972-6CCF044B-16F2-4913-A507-0A796396668B
OpenCitations bibliographic resource ID	https://w3id.org/oc/corpus/br/3912221
author name string	James A Richardson Eric N Olson Carmen L Cadilla Lihadh I Al-Gazali Turgut Tukel Jose Casasnovas Drazen Šošić Mónica Erazo
OpenCitations bibliographic resource ID	3912221
rdfs:label	Homozygous nonsense mutations in TWIST2 cause Setleis syndrome (en) Homozygous nonsense mutations in TWIST2 cause Setleis syndrome (nl) Homozygous nonsense mutations in TWIST2 cause Setleis syndrome (ast)
skos:prefLabel	Homozygous nonsense mutations in TWIST2 cause Setleis syndrome (en) Homozygous nonsense mutations in TWIST2 cause Setleis syndrome (nl) Homozygous nonsense mutations in TWIST2 cause Setleis syndrome (ast)
name	Homozygous nonsense mutations in TWIST2 cause Setleis syndrome (en) Homozygous nonsense mutations in TWIST2 cause Setleis syndrome (nl) Homozygous nonsense mutations in TWIST2 cause Setleis syndrome (ast)
author	wds:Q28594972-648E3F8D-F369-45F6-9A30-9206C00A6310 wds:Q28594972-B6109EC7-4F9D-4956-ACB2-001C130DECF1
author	Robert J. Desnick Hector L Franco
title	wds:Q28594972-2626234A-7A1E-42D0-AE98-9FA5CCAB55A1

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