Clinical dividends from the molecular genetic diagnosis of craniosynostosis

AOM Wilkie, EG Bochukova… - American Journal of …, 2006 - Wiley Online Library
A dozen years have passed since the first genetic lesion was identified in a family with
craniosynostosis, the premature fusion of the cranial sutures. Subsequently, mutations in the …

Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension

EAB Azizan, H Poulsen, P Tuluc, J Zhou, MV Clausen… - Nature …, 2013 - nature.com
At least 5% of individuals with hypertension have adrenal aldosterone-producing adenomas
(APAs). Gain-of-function mutations in KCNJ5 and apparent loss-of-function mutations in …

Large, rare chromosomal deletions associated with severe early-onset obesity

EG Bochukova, NI Huang, J Keogh, E Henning… - Nature, 2010 - nature.com
Obesity is a highly heritable and genetically heterogeneous disorder. Here we investigated
the contribution of copy number variation to obesity in 300 Caucasian patients with severe …

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome

SRF Twigg, R Kan, C Babbs… - Proceedings of the …, 2004 - National Acad Sciences
Craniofrontonasal syndrome (CFNS) is an X-linked developmental disorder that shows
paradoxically greater severity in heterozygous females than in hemizygous males. Females …

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

E Wheeler, N Huang, EG Bochukova, JM Keogh… - Nature …, 2013 - nature.com
Common and rare variants associated with body mass index (BMI) and obesity account for<
5% of the variance in BMI. We performed SNP and copy number variation (CNV) association …

Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis

AE Merrill, EG Bochukova, SM Brugger… - Human molecular …, 2006 - academic.oup.com
Boundaries between cellular compartments often serve as signaling interfaces during
embryogenesis. The coronal suture is a major growth center of the skull vault and develops …

[HTML][HTML] Human SH2B1 mutations are associated with maladaptive behaviors and obesity

ME Doche, EG Bochukova, HW Su… - The Journal of …, 2012 - Am Soc Clin Investig
Src homology 2 B adapter protein 1 (SH2B1) modulates signaling by a variety of ligands that
bind to receptor tyrosine kinases or JAK-associated cytokine receptors, including leptin …

[HTML][HTML] Rare variants in single-minded 1 (SIM1) are associated with severe obesity

S Ramachandrappa, A Raimondo… - The Journal of …, 2013 - Am Soc Clin Investig
Single-minded 1 (SIM1) is a basic helix-loop-helix transcription factor involved in the
development and function of the paraventricular nucleus of the hypothalamus. Obesity has …

[HTML][HTML] KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation

LR Pearce, N Atanassova, MC Banton, B Bottomley… - Cell, 2013 - cell.com
Kinase suppressor of Ras 2 (KSR2) is an intracellular scaffolding protein involved in multiple
signaling pathways. Targeted deletion of Ksr2 leads to obesity in mice, suggesting a role in …

[PDF][PDF] Human semaphorin 3 variants link melanocortin circuit development and energy balance

AA Van Der Klaauw, S Croizier, EM De Oliveira… - Cell, 2019 - cell.com
Hypothalamic melanocortin neurons play a pivotal role in weight regulation. Here, we
examined the contribution of Semaphorin 3 (SEMA3) signaling to the development of these …