Results 61 to 70 of about 132,731 (277)

TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara, Naoki Kihara, Satoko Miyatake, Koji Fujita, Konoka Tachibana, Ryosuke Miyamoto, Hiroki Yamazaki, Yusuke Osaki, Nazere Keyoumu, Yuki Kuwano, Nobutoshi Morimoto, Suzuran Saito, Eriko Koshimizu, Yoichi Otomi, Kenji Ishibashi, Masafumi Harada, Naomichi Matsumoto, Hiroyuki Morino, Yuishin Izumi   +18 more
wiley   +1 more source

Mechanistic insights into NFIX frameshift mutations in Malan syndrome: proteasomal degradation-mediated haploinsufficiency

Frontiers in Genetics
ObjectiveTo investigated the pathogenic mechanism of NFIX frameshift mutations in Malan syndrome.MethodsReviewed the clinical diagnosis and treatment processes of the Malan syndrome proband, analyzing the relationship between NFIX frameshift mutation ...
Yan Zhou, Linbing Zou, Yaoyao Li
doaj   +1 more source

Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B

Endocrine Connections, 2018
Liddle syndrome (LS), a monogenetic autosomal dominant disorder, is mainly characterized by early-onset hypertension and hypokalemia. Clinically, misdiagnosis or missing diagnosis is common, since clinical phenotypes of LS are variable and nonspecific ...
Peng Fan, Chao-Xia Lu, Di Zhang, Kun-Qi Yang, Pei-Pei Lu, Ying Zhang, Xu Meng, Su-Fang Hao, Fang Luo, Ya-Xin Liu, Hui-Min Zhang, Lei Song, Jun Cai, Xue Zhang, Xian-Liang Zhou   +14 more
doaj   +1 more source

Classic Ehlers–Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1

BMC Pediatrics, 2020
Background Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by skin hyperextensibility, joint hypermobility and soft tissue vulnerable to blunt injury.
Wei-Ching Chiu, Shu-Huey Chen, Mei-Chen Lo, Yung-Ting Kuo   +3 more
doaj   +1 more source

A frameshift mutation of TMPRSS3 in a Chinese family with non-syndromic hearing loss

Frontiers in Pediatrics, 2022
BackgroundDeafness is the most common sensory defect in humans worldwide. Approximately 50% of cases are attributed to genetic factors, and about 70% are non-syndromic hearing loss (NSHL).ObjectivesTo identify clinically relevant gene variants associated
Jingwen Liang, Zhuoheng Yu, Zhangxing Wang, Jianxia Chen, Yihuan Liu, Zhaoqing Yin, Ruihuan Xu   +6 more
doaj   +1 more source

Parallel analysis of ribonucleotide-dependent deletions produced by yeast Top1 in vitro and in vivo [PDF]

, 2016
Ribonucleotides are the most abundant non-canonical component of yeast genomic DNA and their persistence is associated with a distinctive mutation signature characterized by deletion of a single repeat unit from a short tandem repeat.
Burgers, Peter M, Cho, Jang-Eun, Huang, Shar-yin N, Jinks-Robertson, Sue, Pommier, Yves, Shuman, Stewart   +5 more
core   +2 more sources

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GMCSF [PDF]

, 2016
BACKGROUND & AIMS: Crohn's disease (CD) has the highest prevalence in Ashkenazi Jewish populations. We sought to identify rare, CD-associated frameshift variants of high functional and statistical effects. METHODS: We performed exome-sequencing and array-
Abraham, C, Abreu, MT, Atzmon, G, Barzilai, N, Bowen, BM, Brant, SR, Cheifetz, AS, Cho, JH, Chuang, LS, Daly, MJ, Darvasi, A, Datta, LW, Desnick, RJ, Dubinsky, MJ, Duerr, RH, Facey, JA, Fernandez-Hernandez, H, George, J, Gnjatic, S, Gusev, A, Hakonarson, H, Haritunians, T, Hsu, NY, Hui, KY, Katz, S, Kugathasan, S, Legnani, P, Lencz, T, Levine, AP, Li, D, Lipka, S, Luong, T, McCauley, JL, McGovern, DP, Merad, M, Mortha, A, Muise, AM, Ng, SM, Ning, K, Pe'er, I, Peter, I, Plagnol, V, Pontikos, N, Rahman, A, Remark, R, Rivas, M, Rotter, JI, Sands, BE, Scherl, EJ, Schiff, ER, Schumm, LP, Segal, AW, Sharma, Y, Silverberg, MS, Stempak, JM, Targan, S, Taylor, K, Villaverde, N, Zhang, W, Zhao, H   +59 more
core   +1 more source

Versatile CRISPR‐Cas Tools for Gene Regulation in Zebrafish via an Enhanced Q Binary System

Advanced Science, EarlyView.
This study introduces CRISPR‐Q, a transgenic CRISPR‐Cas system leveraging the QFvpr/QUAS binary expression platform in zebrafish. CRISPR‐Q overcomes previous challenges in achieving stable and efficient gene regulation. By enabling precise spatiotemporal control of transcript knockdown (CRISPR‐QKD) and gene activation (CRISPR‐Qa), it provides a ...
Miaoyuan Shi, Weiqi Ge, Changheng Li, Bin Liu, Xiaoyi Deng, Chengjie Liu, Meijun Zheng, Pu Zhang, Lei Li, Ying Guo, Yunqi Han, Yu Yang, Yanxun V. Yu, Youngnam N. Jin   +13 more
wiley   +1 more source

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency [PDF]

, 2017
open48siMultiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of metabolic disorders with combined respiratory-chain deficiency and a neuromuscular phenotype.

core   +1 more source