Jhang, Cian-Ling Lee, Hom-Yi Chen, Jin-Chung Liao, Wenlin
Published in
Human molecular genetics
Cyclin-dependent kinase-like 5 (CDKL5), a serine-threonine kinase encoded by an X-linked gene, is highly expressed in the mammalian forebrain. Mutations in this gene cause CDKL5 deficiency disorder, a neurodevelopmental encephalopathy characterized by early-onset seizures, motor dysfunction, and intellectual disability. We previously found that mic...
Chen, Shitao Wang, Guishuan Zheng, Xiaoguo Ge, Shunna Dai, Yubing Ping, Ping Chen, Xiangfeng Liu, Guihua Zhang, Jing Yang, Yang
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Published in
Human molecular genetics
Rare coding variants have been proven to be one of the significant factors contributing to spermatogenic failure in patients with non-obstructive azoospermia (NOA) and severe oligospermia (SO). To delineate the molecular characteristics of idiopathic NOA and SO, we performed whole-exome sequencing of 314 unrelated patients of Chinese Han origin and...
Newman, Morgan Nik, Hani Moussavi Sutherland, Greg T Hin, Nhi Kim, Woojin S Halliday, Glenda M Jayadev, Suman Smith, Carole Laird, Angela S Lucas, Caitlin W
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Published in
Human molecular genetics
Ageing is the major risk factor for Alzheimer's disease (AD), a condition involving brain hypoxia. The majority of early-onset familial AD (EOfAD) cases involve dominant mutations in the gene PSEN1. PSEN1 null mutations do not cause EOfAD. We exploited putative hypomorphic and EOfAD-like mutations in the zebrafish psen1 gene to explore the effects ...
Banerji, Christopher R S
Published in
Human molecular genetics
Facioscapulohumeral muscular dystrophy (FSHD) is a prevalent, inherited skeletal myopathy linked to hypomethylation of the D4Z4 macrosatellite at chromosome 4q35. This epigenetic de-repression permits expression of the transcription factor DUX4, which may drive pathology by direct activation of target genes or through inhibition of the homologous t...
Laroche, M Lessard-Beaudoin, M Garcia-Miralles, M Kreidy, C Peachey, E Leavitt, B R Pouladi, M A Graham, R K
Published in
Human molecular genetics
Olfactory dysfunction and altered neurogenesis are observed in several neurodegenerative disorders including Huntington disease (HD). These deficits occur early and correlate with a decline in global cognitive performance, depression and structural abnormalities of the olfactory system including the olfactory epithelium, bulb and cortices. However,...
Massaro, Giulia Hughes, Michael P Whaler, Sammie M Wallom, Kerri-Lee Priestman, David A Platt, Frances M Waddington, Simon N Rahim, Ahad A
Published in
Human molecular genetics
Gaucher disease is caused by mutations in the GBA gene, which encodes for the lysosomal enzyme β-glucocerebrosidase (GCase), resulting in the accumulation of storage material in visceral organs and in some cases the brain of affected patients. While there is a commercially available treatment for the systemic manifestations, neuropathology still re...
Schmitt, Heather M Johnson, William M Aboobakar, Inas F Strickland, Shelby Gomez-Caraballo, María Parker, Megan Finnegan, Laura Corcoran, David L Skiba, Nikolai P Allingham, R Rand
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Published in
Human molecular genetics
Individuals with pseudoexfoliation (PEX) syndrome exhibit various connective tissue pathologies associated with dysregulated extracellular matrix homeostasis. PEX glaucoma is a common, aggressive form of open-angle glaucoma resulting from the deposition of fibrillary material in the conventional outflow pathway. However, the molecular mechanisms th...
Rosen, Samantha M Joshi, Mugdha Hitt, Talia Beggs, Alan H Agrawal, Pankaj B
Published in
Human molecular genetics
Cofilin-2 is an actin-binding protein that is predominantly expressed in skeletal and cardiac muscles and belongs to the AC group of proteins, which includes cofilin-1 and destrin. In humans, cofilin-2 (CFL2) mutations have been associated with congenital myopathies that include nemaline and myofibrillar myopathy. To understand the pathogenicity of...
Castillon, Charlotte Gonzalez, Laurine Domenichini, Florence Guyon, Sandrine Da Silva, Kevin Durand, Christelle Lestaevel, Philippe Vaillend, Cyrille Laroche, Serge Barnier, Jean-Vianney
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Published in
Human molecular genetics
The link between mutations associated with intellectual disability (ID) and the mechanisms underlying cognitive dysfunctions remains largely unknown. Here, we focused on PAK3, a serine/threonine kinase whose gene mutations cause X-linked ID. We generated a new mutant mouse model bearing the missense R67C mutation of the Pak3 gene (Pak3-R67C), known...
Nandakumar, Priyanka Lee, Dongwon Hoffmann, Thomas J Ehret, Georg B Arking, Dan Ranatunga, Dilrini Li, Man Grove, Megan L Boerwinkle, Eric Schaefer, Catherine
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Published in
Human molecular genetics
Hundreds of loci have been associated with blood pressure (BP) traits from many genome-wide association studies. We identified an enrichment of these loci in aorta and tibial artery expression quantitative trait loci in our previous work in ~100 000 Genetic Epidemiology Research on Aging study participants. In the present study, we sought to fine-m...
