Results 91 to 100 of about 27,823 (222)

A novel deep intronic variant introduce dystrophin pseudoexon in Becker muscular dystrophy: A case report

Heliyon
Most pathogenic DMD variants are detectable and interpretable by standard genetic testing for dystrophinopthies. However, approximately 1∼3% of dystrophinopthies patients still do not have a detectable DMD variant after standard genetic testing, most ...
Chang Liu, Yanyu Lu, Haiyan Yu, Zhihao Xie, Chengyue Sun, Xinchao Cheng, Fangfang Niu, Yawen Zhao, Jianwen Deng, Lingchao Meng, Zhaoxia Wang, Yun Yuan, Zhiying Xie   +12 more
doaj   +1 more source

Epigenetic Dysregulation of Somatostatin Receptors (SSTR) 1–5 and Therapeutic Implications in Neuroendocrine and Non‐Neuroendocrine Malignancies

International Journal of Cancer, EarlyView.
ABSTRACT Somatostatin receptors (SSTR) mediate the antiproliferative, antisecretory, and proapoptotic effects of somatostatin and its synthetic analogs. Their surface expression on neuroendocrine tumor (NET) cells is required for somatostatin analog therapy and radiopharmaceutical therapy (RPT).
Neeraj Kumari, Pablo Hoffmann, Laura Reichl, Maximilian Schmutz, Nina Fischer, Thi Tuong Vi Dang, Fulvia Ferrazzi, Pascal Johann, Michaela Kuhlen, Constantin Lapa, Rainer Claus   +10 more
wiley   +1 more source

Examination of Candidate Exonic Variants for Association to Alzheimer Disease in the Amish

PLOS ONE, 2015
Alzheimer disease (AD) is the most common cause of dementia. As with many complex diseases, the identified variants do not explain the total expected genetic risk that is based on heritability estimates for AD. Isolated founder populations, such as the Amish, are advantageous for genetic studies as they overcome heterogeneity limitations associated ...
Laura N D'Aoust, Anna C Cummings, Renee Laux, Denise Fuzzell, Laura Caywood, Lori Reinhart-Mercer, William K Scott, Margaret A Pericak-Vance, Jonathan L Haines   +8 more
openaire   +4 more sources

Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions.

PLoS Genetics, 2019
Human population isolates provide a snapshot of the impact of historical demographic processes on population genetics. Such data facilitate studies of the functional impact of rare sequence variants on biomedical phenotypes, as strong genetic drift can ...
Mihail Halachev, Alison Meynert, Martin S Taylor, Veronique Vitart, Shona M Kerr, Lucija Klaric, S. G. P. Consortium, Timothy J Aitman, Chris S Haley, James G Prendergast, Carys Pugh, David A Hume, Sarah E Harris, David C Liewald, Ian J Deary, Colin A Semple, James F Wilson   +16 more
doaj   +1 more source

Knowledge-driven binning approach for rare variant association analysis: application to neuroimaging biomarkers in Alzheimer’s disease

BMC Medical Informatics and Decision Making, 2017
Background Rapid advancement of next generation sequencing technologies such as whole genome sequencing (WGS) has facilitated the search for genetic factors that influence disease risk in the field of human genetics.
Dokyoon Kim, Anna O. Basile, Lisa Bang, Emrin Horgusluoglu, Seunggeun Lee, Marylyn D. Ritchie, Andrew J. Saykin, Kwangsik Nho   +7 more
doaj   +1 more source

Minimally Invasive Sampling for Molecular Profiling of Lymph Nodes Using a Modified Acupuncture Needle

iMetaMed, EarlyView.
Schematic illustration of the preparation of His@PDA@Needle, a modified acupuncture needle designed for minimally invasive sampling of lymph node‐derived DNA for molecular profiling. ABSTRACT Current clinical liquid biopsy approaches predominantly rely on blood‐derived biomarkers, which are often limited in sensitivity.
Baiping Cui, Mingyu Li, Pingzhu Zhou, Lihfeng Cheow, Hailong Ma, Dongdong Liu   +5 more
wiley   +1 more source

Hyperoside alleviates endometrial stromal cell senescence in unexplained recurrent spontaneous abortion via DHX9‐mediated R‐loop resolution

iMeta, EarlyView.
This study suggests that the food‐derived flavonoid hyperoside may act as a natural DExH‐box helicase 9 (DHX9) modulator, directly targeting Thr419 of DHX9 to help resolve pathological R‐loop accumulation. Consequently, it suppresses cyclic GMP‐AMP synthase‐stimulator of interferon genes (cGAS‐STING)‐driven endometrial stromal senescence and restores ...
Yuepeng Jiang, Hongli Zhao, Xinyi Ding, Haoling Zhang, Yadong Guo, Yiming Ma, Lingyi Cai, Qingnan Fan, Ruisi Peng, Fuyuan Yang, Doblin Sandai, Xianling Cao, Jiali Yao, Wenyi Wang, Zhiheng Lin, Wangzheqi Zhang, Jialin He, Aihua Zhang, Xiaoxuan Zhao   +18 more
wiley   +1 more source

Multiomics Insights Into AL Amyloidosis

Medicine Bulletin, EarlyView.
ABSTRACT Light chain amyloidosis is a systemic or localized protein conformational disorder triggered by misfolded immunoglobulin light chains, leading to amyloid fibril deposition. The disease is characterized by multiorgan involvement and delayed diagnosis, contributing to poor prognosis and high mortality rates.
Zixuan Zhang, Ziru Huang, Haoxiang Tang, Xianrun Pan, Rong Wang, Dingding Zhang, Jian Huang   +6 more
wiley   +1 more source

From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation.

PLoS Genetics
Pathogenic variants in the OCA2 gene result in oculocutaneous albinism. In humans and several other mammalian species, OCA2 is transcribed into two coding mRNAs, a major transcript that encodes the full-length protein and a minor transcript that skips in-
Elina Mercier, David-Alexandre Trégouët, Sébastien Campagne, Vincent Michaud, David J Green, Shahram Mesdaghi, Orane Le Gallais, Orphée Jouannigot-Castano, Daniel J Rigden, Catherine Estay-Ahumada, David Hicks, Panagiotis I Sergouniotis, Benoit Arveiler, Sophie Javerzat   +13 more
doaj   +1 more source

MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by progressive spasticity and lower limb weakness. The most common forms of autosomal dominant HSP are caused by pathogenic variants in SPAST (SPG4 or HSP‐SPAST), ATL1 (SPG3A or HSP‐ATL1), and REEP1 (SPG31 or HSP‐REEP1).
Ce Kang, Rajasumi Rajalingam, Zachary Walls, Jana Huang, Christine Sun, Laura I. Rudaks, Dennis Yeow, Ashar Rasheed, Jenny W. Zhang, Moath Hamed, Marianthi Breza, Susen Schaake, Chetan Vekhande, Jason Massa, Robyn E. Massa, Aakash Shetty, Carolyn M. Sue, Franca Cambi, Oksana Suchowersky, Franca Vulinovic, Sonja Petkovic, Christine Klein, Katja Lohmann, Connie Marras, Kishore R. Kumar   +24 more
wiley   +1 more source