The role of pyroptosis in inflammatory diseases

R Chai, Y Li, L Shui, L Ni, A Zhang - Frontiers in Cell and …, 2023 - frontiersin.org
Programmed cell death has crucial roles in the physiological maturation of an organism, the
maintenance of metabolism, and disease progression. Pyroptosis, a form of programmed …

An overview of PAX1: expression, function and regulation in development and diseases

W Wu, X Kong, Y Jia, Y Jia, W Ou, C Dai… - Frontiers in Cell and …, 2022 - frontiersin.org
Transcription factors play multifaceted roles in embryonic development and diseases. PAX1,
a paired-box transcription factor, has been elucidated to play key roles in multiple tissues …

[HTML][HTML] TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

N Wu, X Ming, J Xiao, Z Wu, X Chen… - … England Journal of …, 2015 - Mass Medical Soc
Background Congenital scoliosis is a common type of vertebral malformation. Genetic
susceptibility has been implicated in congenital scoliosis. Methods We evaluated 161 Han …

A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females

S Sharma, D Londono, WL Eckalbar, X Gao… - Nature …, 2015 - nature.com
Idiopathic scoliosis (IS) is a common paediatric musculoskeletal disease that displays a
strong female bias. By performing a genome-wide association study (GWAS) of 3,102 …

Clinical, genetic and environmental factors associated with congenital vertebral malformations

PF Giampietro, CL Raggio, RD Blank… - Molecular …, 2013 - karger.com
Congenital vertebral malformations (CVM) pose a significant health problem because they
can be associated with spinal deformities, such as congenital scoliosis and kyphosis, in …

COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis

D Rebello, E Wohler, V Erfani, G Li… - Human molecular …, 2023 - academic.oup.com
Human vertebral malformations (VMs) have an estimated incidence of 1/2000 and are
associated with significant health problems including congenital scoliosis (CS) and recurrent …

Cervical vertebral column morphology related to craniofacial morphology and head posture in preorthodontic children with Class II malocclusion and horizontal …

T Arntsen, L Sonnesen - American Journal of Orthodontics and Dentofacial …, 2011 - Elsevier
Introduction In preorthodontic children with Class II malocclusion and horizontal maxillary
overjet, cervical column morphology was examined and related to craniofacial morphology …

Mechanism of deoxynivalenol effects on the reproductive system and fetus malformation: Current status and future challenges

M Yu, L Chen, Z Peng, AK Nuessler, Q Wu, L Liu… - Toxicology in Vitro, 2017 - Elsevier
Deoxynivalenol (DON) is a toxic fungal secondary metabolite produced by molds of the
Fusarium genus, and it is known to cause a spectrum of diseases both in humans and …

Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans

PF Giampietro, SL Dunwoodie… - Annals of the New …, 2009 - Wiley Online Library
Vertebral malformations contribute substantially to the pathophysiology of kyphosis and
scoliosis, common health problems associated with back and neck pain, disability, cosmetic …

Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis

K Takeda, I Kou, N Kawakami, A Iida… - Human …, 2017 - Wiley Online Library
Congenital scoliosis (CS) occurs as a result of vertebral malformations and has an incidence
of 0.5–1/1,000 births. Recently, TBX6 on chromosome 16p11. 2 was reported as a disease …