Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans: Influence Statistics

Expert Impact

Concepts for which they have has direct influence: Genetic etiology , Vertebral malformation , Vertebral malformations , Congenital vertebral , Spine animals , Genetic contributions , Spinal diseases .

Key People For Genetic Etiology

Top KOLs in the world
#1
Mark J Daly
type 2 diabetes ulcerative colitis inflammatory bowel disease
#2
Stacey Bolk Gabriel
exome sequencing myocardial infarction type 2 diabetes
#3
Benjamin M Neale
genetic architecture complex traits psychiatric disorders
#4
Gonçalo Rocha Abecasis
rare variants linkage disequilibrium genome wide
#5
Eric S Lander
human genome gene expression complex traits
#6
Hakonarson Hakonarson
anorexia nervosa genome wide african americans

Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans

Abstract

. Vertebral malformations contribute substantially to the pathophysiology of kyphosis and scoliosis, common health problems associated with back and neck pain, disability, cosmetic disfigurement, and functional distress. This review explores (1) recent advances in the understanding of the molecular embryology underlying vertebral development and relevance to elucidation of etiologies of several known human vertebral malformation syndromes; (2) outcomes of molecular studies elucidating genetic contributions to congenital and sporadic vertebral malformation; and (3) complex interrelationships between genetic and environmental factors that contribute to the pathogenesis of isolated syndromic and nonsyndromic congenital vertebral malformation. Discussion includes exploration of the importance of establishing improved classification systems for vertebral malformation, future directions in molecular and genetic research approaches to vertebral malformation, and translational value of research efforts to clinical management and genetic counseling of affected individuals and their families.