Thompson, William D Beaumont, Robin N Kuang, Alan Warrington, Nicole M Ji, Yingjie Tyrrell, Jessica Wood, Andrew R Scholtens, Denise M Knight, Bridget A Evans, David M
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Published in
Human molecular genetics
Higher birthweight is associated with higher adult body mass index (BMI). Alleles that predispose to greater adult adiposity might act in fetal life to increase fetal growth and birthweight. Whether there are fetal effects of recently identified adult metabolically favorable adiposity alleles on birthweight is unknown. We aimed to test the effect o...
Drongitis, Denise Caterino, Marianna Verrillo, Lucia Santonicola, Pamela Costanzo, Michele Poeta, Loredana Attianese, Benedetta Barra, Adriano Terrone, Gaetano Lioi, Maria Brigida
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Published in
Human molecular genetics
X-linked lissencephaly with abnormal genitalia (XLAG) and developmental epileptic encephalopathy-1 (DEE1) are caused by mutations in the Aristaless-related homeobox (ARX) gene, which encodes a transcription factor responsible for brain development. It has been unknown whether the phenotypically diverse XLAG and DEE1 phenotypes may converge on share...
Guggenheim, Jeremy A Clark, Rosie Cui, Jiangtian Terry, Louise Patasova, Karina Haarman, Annechien E G Musolf, Anthony M Verhoeven, Virginie J M Klaver, Caroline C W Bailey-Wilson, Joan E
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Published in
Human molecular genetics
Refractive errors are associated with a range of pathological conditions, such as myopic maculopathy and glaucoma, and are highly heritable. Studies of missense and putative loss of function (pLOF) variants identified via whole exome sequencing (WES) offer the prospect of directly implicating potentially causative disease genes. We performed a geno...
Sonehara, Kyuto Sakaue, Saori Maeda, Yuichi Hirata, Jun Kishikawa, Toshihiro Yamamoto, Kenichi Matsuoka, Hidetoshi Yoshimura, Maiko Nii, Takuro Ohshima, Shiro
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Published in
Human molecular genetics
Understanding the genetic effects on non-coding RNA (ncRNA) expression facilitates functional characterization of disease-associated genetic loci. Among several classes of ncRNAs, microRNAs (miRNAs) are key post-transcriptional gene regulators. Despite its biological importance, previous studies on the genetic architecture of miRNA expression focus...
Chekuri, Anil Logan, Emily M Krauson, Aram J Salani, Monica Ackerman, Sophie Kirchner, Emily G Bolduc, Jessica M Wang, Xia Dietrich, Paula Dragatsis, Ioannis
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Published in
Human molecular genetics
Familial dysautonomia (FD) is an autosomal recessive neurodegenerative disease caused by a splicing mutation in the gene encoding Elongator complex protein 1 (ELP1, also known as IKBKAP). This mutation results in tissue-specific skipping of exon 20 with a corresponding reduction of ELP1 protein, predominantly in the central and peripheral nervous s...
Lange, Karen I Best, Sunayna Tsiropoulou, Sofia Berry, Ian Johnson, Colin A Blacque, Oliver E
Published in
Human molecular genetics
Better methods are required to interpret the pathogenicity of disease-associated variants of uncertain significance (VUS), which cannot be actioned clinically. In this study, we explore the use of an animal model (Caenorhabditis elegans) for in vivo interpretation of missense VUS alleles of TMEM67, a cilia gene associated with ciliopathies. CRISPR/...
Caetano da Silva, Caroline Edouard, Thomas Fradin, Melanie Aubert-Mucca, Marion Ricquebourg, Manon Raman, Ratish Salles, Jean Pierre Charon, Valérie Guggenbuhl, Pascal Muller, Marc
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Published in
Human molecular genetics
Monogenic early onset osteoporosis (EOOP) is a rare disease defined by low bone mineral density (BMD) that results in increased risk of fracture in children and young adults. Although several causative genes have been identified, some of the EOOP causation remains unresolved. Whole-exome sequencing revealed a de novo heterozygous loss-of-function m...
Laaksonen, Jaakko Mishra, Pashupati P Seppälä, Ilkka Raitoharju, Emma Marttila, Saara Mononen, Nina Lyytikäinen, Leo-Pekka Kleber, Marcus E Delgado, Graciela E Lepistö, Maija
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Published in
Human molecular genetics
Mitochondria have a complex communication network with the surrounding cell and can alter nuclear DNA methylation (DNAm). Variation in the mitochondrial DNA (mtDNA) has also been linked to differential DNAm. Genome-wide association studies have identified numerous DNAm quantitative trait loci, but these studies have not examined the mitochondrial g...
Chen, Kai Liu, Xinxin Liu, Weikang Wang, Feng Tian, Xiaodong Yang, Yinmo
Published in
Human molecular genetics
The 5-year overall survival (OS) of pancreatic ductal adenocarcinoma (PDAC) is only 10%, partly owing to the lack of reliable diagnostic and prognostic biomarkers. The raw gene-cell matrix for single-cell RNA-seq (scRNA-seq) analysis was downloaded from the GSA database. We drew cell atlas for PDAC and normal pancreatic tissues. The inferCNV analys...
Knol, Maria J Pawlak, Mikolaj A Lamballais, Sander Terzikhan, Natalie Hofer, Edith Xiong, Ziyi Klaver, Caroline C W Pirpamer, Lukas Vernooij, Meike W Ikram, M Arfan
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Published in
Human molecular genetics
The interocular distance, or orbital telorism, is a distinctive craniofacial trait that also serves as a clinically informative measure. While its extremes, hypo- and hypertelorism, have been linked to monogenic disorders and are often syndromic, little is known about the genetic determinants of interocular distance within the general population. W...
