Brazdis, Razvan-Marius Alecu, Julian E Marsch, Daniel Dahms, Annika Simmnacher, Katrin Lörentz, Sandra Brendler, Anna Schneider, Yanni Marxreiter, Franz Roybon, Laurent
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Published in
Human Molecular Genetics
Parkinson’s disease (PD) is a neurodegenerative disorder characterized by protein inclusions mostly composed of aggregated forms of α-synuclein (α-Syn) and by the progressive degeneration of midbrain dopaminergic neurons (mDANs), resulting in motor symptoms. While other brain regions also undergo pathologic changes in PD, the relevance of α-Syn agg...
Szymczak, Silke Dose, Janina Torres, Guillermo G Heinsen, Femke-Anouska Venkatesh, Geetha Datlinger, Paul Nygaard, Marianne Mengel-From, Jonas Flachsbart, Friederike Klapper, Wolfram
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Published in
Human Molecular Genetics
Human longevity is a complex trait influenced by both genetic and environmental factors, whose interaction is mediated by epigenetic mechanisms like DNA methylation. Here, we generated genome-wide whole-blood methylome data from 267 individuals, of which 71 were long-lived (90–104 years), by applying reduced representation bisulfite sequencing. We ...
Iaconis, Daniela Crina, Claudia Brillante, Simona Indrieri, Alessia Morleo, Manuela Franco, Brunella
Published in
Human Molecular Genetics
Primary cilia are microtubule-based organelles that assemble and protrude from the surface of most mammalian cells during quiescence. The biomedical relevance of cilia is indicated by disorders ascribed to cilia dysfunction, known as ciliopathies, that display distinctive features including renal cystic disease. In this report, we demonstrate that ...
Liang, Chen Shao, Qiang Zhang, Wei Yang, Mei Chang, Qing Chen, Rong Chen, Jian-Fu
Published in
Human Molecular Genetics
Maynard, Thomas M Horvath, Anelia P Bernot, James Karpinski, Beverly A Tavares, Andre L P Shah, Ankita Zheng, Qianqian Spurr, Liam Olender, Jacqueline Moody, Sally A
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Published in
Human Molecular Genetics
LgDel mice, which model the heterozygous deletion of genes at human chromosome 22q11.2 associated with DiGeorge/22q11.2 deletion syndrome (22q11DS), have cranial nerve and craniofacial dysfunction as well as disrupted suckling, feeding and swallowing, similar to key 22q11DS phenotypes. Divergent trigeminal nerve (CN V) differentiation and altered t...
Cheng, Hanyin Gottlieb, Leah Marchi, Elaine Kleyner, Robert Bhardwaj, Puja Rope, Alan F Rosenheck, Sarah Moutton, Sébastien Philippe, Christophe Eyaid, Wafaa
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Published in
Human Molecular Genetics
Fahrner, Jill A Bjornsson, Hans T
Published in
Human Molecular Genetics
Elorza-Vidal, Xabier Xicoy-Espaulella, Efren Pla-Casillanis, Adrià Alonso-Gardón, Marta Gaitán-Peñas, Héctor Engel-Pizcueta, Carolyn Fernández-Recio, Juan Estévez, Raúl
Published in
Human Molecular Genetics
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a type of leukodystrophy characterized by white matter edema, and it is caused mainly by recessive mutations in MLC1 and GLIALCAM genes. These variants are called MLC1 and MLC2A with both types of patients sharing the same clinical phenotype. In addition, dominant mutations in GLIA...
Nag, Abhishek Kurushima, Yuko Bowyer, Ruth C E Wells, Philippa M Weiss, Stefan Pietzner, Maik Kocher, Thomas Raffler, Johannes Völker, Uwe Mangino, Massimo
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Published in
Human Molecular Genetics
Saliva, as a biofluid, is inexpensive and non-invasive to obtain, and provides a vital tool to investigate oral health and its interaction with systemic health conditions. There is growing interest in salivary biomarkers for systemic diseases, notably cardiovascular disease. Whereas hundreds of genetic loci have been shown to be involved in the reg...
Salas, Lucas A Lundgren, Sara N Browne, Eva P Punska, Elizabeth C Anderton, Douglas L Karagas, Margaret R Arcaro, Kathleen F Christensen, Brock C
Published in
Human Molecular Genetics
Prior candidate gene studies have shown tumor suppressor DNA methylation in breast milk related with history of breast biopsy, an established risk factor for breast cancer. To further establish the utility of breast milk as a tissue-specific biospecimen for investigations of breast carcinogenesis, we measured genome-wide DNA methylation in breast m...
