Associated Papers
Mechanisms of Regulation of the CHRDL1 Gene by the TWIST2 and ADD1/SREBP1c Transcription Factors.
Casasnovas-Nieves JJ et al.
Genes, 2023
SP140 regulates the expression of immune-related genes associated with multiple sclerosis and other autoimmune diseases by NF-κB inhibition.
Karaky M et al.
Human Molecular Genetics, 2018
30102396 (PubMed )
Supplement: ddy284_supp.zip › Supplementary_table_5.xlsx › Single_Gene_Perturbations_from_
The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.
Lee BH et al.
Journal of Medical Genetics, 2017
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.
De Maria B et al.
American Journal of Medical Genetics. Part A, 2016
Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation.
Rosti RO et al.
Clinical Genetics, 2015
Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance.
Lee BH et al.
Journal of Human Genetics, 2015
A novel frameshift mutation in TWIST2 gene causing Setleis syndrome.
Girisha KM et al.
Indian Journal of Pediatrics, 2014
Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin.
Franco HL et al.
The International Journal of Biochemistry & Cell Biology, 2011
Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification.
Cervantes-Barragán DE et al.
Journal of Medical Genetics, 2011
Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.
Tukel T et al.
American Journal of Human Genetics, 2010
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
Al-Gazali L et al.
Human Mutation, 2010
Zellweger syndrome: first reported case in Thailand and literature review.
Jaruratanasirikul S et al.
The Southeast Asian Journal of Tropical Medicine and Public Health, 1995
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