Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

CA Gurnett, DM Desruisseau, K McCall… - Human molecular …, 2010 - academic.oup.com
Distal arthrogryposis type I (DA1) is a disorder characterized by congenital contractures of
the hands and feet for which few genes have been identified. Here we describe a five …

Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice

DM Alvarado, K McCall, H Aferol… - Human molecular …, 2011 - academic.oup.com
Clubfoot affects 1 in 1000 live births, although little is known about its genetic or
developmental basis. We recently identified a missense mutation in the PITX1 bicoid …

[PDF][PDF] Familial isolated clubfoot is associated with recurrent chromosome 17q23. 1q23. 2 microduplications containing TBX4

DM Alvarado, H Aferol, K McCall, JB Huang… - The American Journal of …, 2010 - cell.com
Clubfoot is a common musculoskeletal birth defect for which few causative genes have been
identified. To identify the genes responsible for isolated clubfoot, we screened for genomic …

A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis

G Haller, D Alvarado, K Mccall, P Yang… - Human molecular …, 2016 - academic.oup.com
Adolescent idiopathic scoliosis (AIS) is a complex inherited spinal deformity whose etiology
has been elusive. While common genetic variants are associated with AIS, they explain only …

[HTML][HTML] A missense variant in SLC39A8 is associated with severe idiopathic scoliosis

G Haller, K McCall, S Jenkitkasemwong… - Nature …, 2018 - nature.com
Genetic factors predictive of severe adolescent idiopathic scoliosis (AIS) are largely
unknown. To identify genetic variation associated with severe AIS, we performed an exome …

[PDF][PDF] Rare and de novo coding variants in chromodomain genes in Chiari I malformation

B Sadler, J Wilborn, L Antunes, T Kuensting… - The American Journal of …, 2021 - cell.com
Summary Chiari I malformation (CM1), the displacement of the cerebellum through the
foramen magnum into the spinal canal, is one of the most common pediatric neurological …

Deletions of 5′ HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus

DM Alvarado, K McCall, JT Hecht, MB Dobbs… - Journal of medical …, 2016 - jmg.bmj.com
Background Deletions of the HOXC gene cluster result in variable phenotypes in mice, but
have been rarely described in humans. Objective To report chromosome 12q13. 13 …

MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis

K Ha, JG Buchan, DM Alvarado, K Mccall… - Human molecular …, 2013 - academic.oup.com
Myosin-binding protein C1 (MYBPC1) is an abundant skeletal muscle protein that is
expressed predominantly in slow-twitch muscle fibers. Human MYBPC1 mutations are …

Sectoral market mechanisms: Issues for negotiation and domestic implementation

A Aasrud, R Baron, B Buchner, K McCall - 2009 - oecd-ilibrary.org
This paper reviews proposals for the design of sectoral and related market mechanisms that
are being debated both in the UNFCCC negotiations and in different domestic legislative …

[HTML][HTML] Candidate genes for alcohol preference identified by expression profiling in alcohol-preferring and-nonpreferring reciprocal congenic rats

T Liang, MW Kimpel, JN McClintick, AR Skillman… - Genome biology, 2010 - Springer
Background Selectively bred alcohol-preferring (P) and alcohol-nonpreferring (NP) rats
differ greatly in alcohol preference, in part due to a highly significant quantitative trait locus …