Yau, Michelle S Kuipers, Allison L Price, Ryan Nicolas, Aude Tajuddin, Salman M Handelman, Samuel K Arbeeva, Liubov Chesi, Alessandra Hsu, Yi-Hsiang Liu, Ching-Ti
...
Published in
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Genetic studies of bone mineral density (BMD) largely have been conducted in European populations. We therefore conducted a meta-analysis of six independent African ancestry cohorts to determine whether previously reported BMD loci identified in European populations were transferable to African ancestry populations. We included nearly 5000 individu...
Hens, Bart Bermejo, Marival Augustijns, Patrick Cristofoletti, Rodrigo Amidon, Gregory E Amidon, Gordon L
Published in
Pharmaceutics
The authors make the following correction to this paper after the final publication of the work [...].
Stroobants, Stijn; D'Hooge, Rudi; 43549; Damme, Markus;
Genetic variants in TMEM106B are a major risk factor for several neurodegenerative diseases including frontotemporal degeneration, limbic-predominant age-related TDP-43 encephalopathy, Parkinson's disease, late-onset-Alzheimer's disease and constitute a genetic determinant of differential aging. TMEM106B encodes an integral lysosomal membrane prote...
Tiet, May Yung Horvath, Rita Hensiek, Anke E
Published in
Practical neurology
Ataxia telangiectasia is an autosomal recessive DNA repair disorder characterised by complex neurological symptoms, with an elevated risk of malignancy, immunodeficiency and other systemic complications. Patients with variant ataxia telangiectasia-with some preserved ataxia telangiectasia-mutated (ATM) kinase activity-have a milder and often atypic...
Bouakaze, Caroline Delehelle, Franklin Saenz-Oyhéréguy, Nancy Moreira, Andreia Schiavinato, Stéphanie Croze, Myriam Delon, Solène Fortes-Lima, Cesar Gibert, Morgane Bujan, Louis
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Published in
Forensic science international. Genetics
We developed a new mutationally well-balanced 32 Y-STR multiplex (CombYplex) together with a machine learning (ML) program PredYMaLe to assess the impact of STR mutability on haplogourp prediction, while respecting forensic community criteria (high DC/HD). We designed CombYplex around two sub-panels M1 and M2 characterized by average and high-mutat...
Hegyi, Eszter Tóth, Anna Zsófia Vincze, Áron Szentesi, Andrea Hegyi, Péter Sahin-Tóth, Miklós
Published in
Gut
Schirmer, Markus D; Donahue, Kathleen L; Nardin, Marco J; Dalca, Adrian; Giese, Anne-Katrin; Etherton, Mark R; Mocking, Steven JT; McIntosh, Elissa C; Cole, John W; Holmegaard, Lukas;
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OBJECTIVE: To determine whether brain volume is associated with functional outcome after acute ischemic stroke (AIS). PATIENTS AND METHODS: This study was conducted between July 1, 2014, and March 16, 2019. We analyzed cross-sectional data of the multisite, international hospital-based MRI-Genetics Interface Exploration study with clinical brain ma...
Jones, Alicia R Hare, Matthew JL Brown, Justin Yang, Jun Meyer, Caroline Milat, Frances Allan, Carolyn A
Published in
JBMR Plus
Familial hypocalciuric hypercalcemia (FHH) is a group of autosomal dominant disorders caused by dysfunction of the calcium sensing receptor (CaSR) and its downstream signaling proteins, leading to generally asymptomatic hypercalcemia. During pregnancy, distinguishing FHH from primary hyperparathyroidism (PHPT) is important, as the latter is associa...
Bennett, Jon H; Beeley, Josie A; Anderson, Paul; Belfield, Louise; Brand, Henk S; Didilescu, Andreea C; Dymock, David; Guven, Yegane; Hector, Mark P; Holbrook, Peter;
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INTRODUCTION: The biomedical sciences (BMS) are a central part of the dental curriculum that underpins teaching and clinical practice in all areas of dentistry. Although some specialist groups have proposed curricula in their particular topic areas, there is currently no overarching view of what should be included in a BMS curriculum for undergradu...
Ghosh, Sharmila; Davis, Brian W; Rosengren, Maria; Jevit, Matthew J; Castaneda, Caitlin; Arnold, Carolyn; Jaxheimer, Jay; Love, Charles C; Varner, Dickson D; Lindgren, Gabriella; 120649;
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Disorders of sex development (DSD) and reproduction are not uncommon among horses, though knowledge about their molecular causes is sparse. Here we characterized a ~200 kb homozygous deletion in chromosome 29 at 29.7-29.9 Mb. The region contains AKR1C genes which function as ketosteroid reductases in steroid hormone biosynthesis, including androgen...
