Results 81 to 90 of about 130,329 (268)

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou, Carl D. Langefeld, Padmini Sekar, Mary Comeau, Timothy Howard, Tamara N. Kimball, Chen Bowang, Hyacinth I. Hyacinth, Jonathan Rosand, Christopher D. Anderson, Caspar Grond‐Ginsbach, Daniel Woo, Stacie L. Demel   +12 more
wiley   +1 more source

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 more
wiley   +1 more source

Case report of individual with cutaneous immunodeficiency and novel 1p36 duplication

The Application of Clinical Genetics, 2016
Alyn D Hatter,1 David C Soler,2,3 Christine Curtis,4 Kevin D Cooper,1,2,3,5 Thomas S McCormick,2,31University Hospitals Case Medical Center, 2Department of Dermatology, 3The Murdough Family Center for Psoriasis, Case Western Reserve University ...
Hatter AD, Soler DC, Curtis C, Cooper KD, McCormick TS   +4 more
doaj  

Surviving a Genome Collision: Genomic Signatures of Allopolyploidization in the Recent Crop Species [PDF]

, 2017
Polyploidization has played a major role in crop plant evolution, leading to advantageous traits that have been selected by humans. Here, we describe restructuring patterns in the genome of Brassica napus L., a recent allopolyploid species.
Chalhoub, Boulos, Samans, Birgit, Snowdon, Rod J.   +2 more
core   +1 more source

Primary azoospermia factor C duplication associated with spermatogenic impariment: a case–control study based on Y‐chromosome haplogrouping in a Han Chinese population [PDF]

, 2023
Shengyu Xie, Yongyi Ma, Yunqiang Liu, Dachang Tao, Zhaokun Wang, Yuan Yang   +5 more
openalex   +1 more source

Triazine‐Trione Thermosets with High Processability for Scaffold Applications in Bone Tissue Engineering

Advanced Healthcare Materials, EarlyView.
Novel photo‐clickable triazine‐trione thermosets can be shaped and cured under mild conditions, including room and physiological temperatures. These materials are biocompatible and support osteogenic differentiation of bone marrow–derived mesenchymal stem cells on their surface.
Åshild Johansen, Shuntaro Yamada, Daniel J. Hutchinson, Mohammed A. Yassin, Samih Mohamed‐Ahmed, Cecilie Gjerde, Michael Malkoch, Kamal Mustafa   +7 more
wiley   +1 more source

Case report: Management of pediatric gigantism caused by the TADopathy, X-linked acrogigantism

Frontiers in Endocrinology
X-linked acrogigantism (X-LAG) is a rare form of pituitary gigantism that is associated with growth hormone (GH) and prolactin-secreting pituitary adenomas/pituitary neuroendocrine tumors (PitNETs) that develop in infancy.
Manuela Caruso, Diego Mazzatenta, Diego Mazzatenta, Sofia Asioli, Sofia Asioli, Giuseppe Costanza, Giampaolo Trivellin, Giampaolo Trivellin, Martin Franke, Dayana Abboud, Julien Hanson, Véronique Raverot, Patrick Pétrossians, Albert Beckers, Marco Cappa, Adrian F. Daly   +15 more
doaj   +1 more source

High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation. [PDF]

PLoS ONE, 2012
Posterior polymorphous corneal dystrophy (PPCD) is a rare autosomal dominant genetically heterogeneous disorder. Nineteen Czech PPCD pedigrees with 113 affected family members were identified, and 17 of these kindreds were genotyped for markers on ...
Petra Liskova, Rhian Gwilliam, Martin Filipec, Katerina Jirsova, Stanislava Reinstein Merjava, Panos Deloukas, Tom R Webb, Shomi S Bhattacharya, Neil D Ebenezer, Alex G Morris, Alison J Hardcastle   +10 more
doaj   +1 more source

Gain of 20q11.21 in human pluripotent stem cells impairs TGF-β-dependent neuroectodermal commitment [PDF]

, 2019
Gain of 20q11.21 is one of the most common recurrent genomic aberrations in human pluripotent stem cells. Although it is known that overexpression of the antiapoptotic gene Bcl-xL confers a survival advantage to the abnormal cells, their differentiation ...
De Deckersberg, E. Couvreu, De Kock, J., Dziedzicka, D., Franceschini, L., Geens, M., Keller, A., Markouli, C., Nguyen, H. T., Regin, M., Sermon, K., Spits, C., Tilleman, Laurentijn, Van Nieuwerburgh, Filip, Zambelli, F.   +13 more
core   +1 more source

Epstein‐Barr Virus Expressed Long Non‐Coding RNA (lncBARTs) Regulate EBV Latent Genome Replication

Advanced Science, EarlyView.
EBV produces abundant level of lncBARTs, which are essential for maintaining viral genome replication in EBV‐associated cancers. LncBARTs interact with a complex comprising BRD4, CTCF and viral protein EBNA1 at EBV oriP region. This interaction tethers oriP to host chromosomes, facilitating EBV episome replication.
Jiayan Liu, Dittman Lai‐Shun Chung, Larry Ka‐Yue Chow, Shuo Han, Wenkai Yi, Conor J. Cremin, Yingyin Liao, Pui Wang, Bobo Wing‐Yee Mok, Mingfang Ji, Jian Yan, Wei Dai, Honglin Chen   +12 more
wiley   +1 more source