Results 41 to 50 of about 132,731 (277)

A de novo ANK1 mutation associated to hereditary spherocytosis: a case report

BMC Pediatrics, 2019
Background Hereditary spherocytosis (HS) is a type of hemolytic anemia caused by abnormal red cell membrane skeletal proteins with few unique clinical manifestations in the neonate and infant. An ANK1 gene mutation is the most common cause of HS.
Ti-Long Huang, Bao-Hua Sang, Qing-Ling Lei, Chun-Yan Song, Yun-Bi Lin, Yu Lv, Chun-Hui Yang, Na Li, Yue-Huang Yang, Xian-Wen Zhang, Xin Tian   +10 more
doaj   +1 more source

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]

, 2010
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F, Crompton, Danielle, De Gressi, Susanna, Foster, Kathleen, Hardy, Carol, Hughes, Imelda, Kurian, Manju A, Lunt, Peter, MacPherson, Lesley, Maher, Eamonn R, McDonald, Fiona, Morgan, Neil V, Pike, Michael G, Rehal, Pauline K, Smith, Matthew   +14 more
core   +1 more source

Targeted next-generation sequencing of dedifferentiated chondrosarcoma in the skull base reveals combined TP53 and PTEN mutations with increased proliferation index, an implication for pathogenesis [PDF]

, 2016
Dedifferentiated chondrosarcoma (DDCS) is a rare disease with a dismal prognosis. DDCS consists of two morphologically distinct components: the cartilaginous and noncartilaginous components.
Cao, Dengfeng, Chen, Rongrong, Chen, Xi, DeLaney, Thomas F, Gao, Lu, Gao, Xiaohuan, Gong, Xinqi, Guo, Xiaopeng, Hong, Xiafei, Ni, Jianjiao, Tian, Pangzehuan, Wang, Renzhi, Xing, Bing, Yao, Yong   +13 more
core   +2 more sources

Frameshift mutations of YPEL3 alter the sensory circuit function in Drosophila

Disease Models & Mechanisms, 2020
A frameshift mutation in Yippee-like (YPEL) 3 was recently found from a rare human disorder with peripheral neurological conditions including hypotonia and areflexia.
Jung Hwan Kim, Monika Singh, Geng Pan, Adrian Lopez, Nicholas Zito, Benjamin Bosse, Bing Ye   +6 more
doaj   +1 more source

Position of Premature Termination Codons Determines Susceptibility of hERG Mutations to Nonsense-Mediated mRNA Decay in Long QT Syndrome

, 2014
The degradation of human ether-a-go-go-related gene (hERG, KCNH2) transcripts containing premature termination codon (PTC)mutations by nonsense-mediatedmRNA decay (NMD) is an importantmechanismof long QT syndrome type 2 (LQT2).
Gong, Qiuming, Stump, Matthew R., Zhou, Zhengfeng   +2 more
core   +1 more source

Comparative genome analysis of Wolbachia strain wAu [PDF]

, 2014
BACKGROUND: Wolbachia intracellular bacteria can manipulate the reproduction of their arthropod hosts, including inducing sterility between populations known as cytoplasmic incompatibility (CI). Certain strains have been identified that are unable to
Harris, Simon R., Parkhill, Julian, Sinkins, Steven P., Sutton, Elizabeth R.   +3 more
core   +2 more sources

LSD1 is a targetable vulnerability in gastric cancer harboring TP53 frameshift mutations

Clinical Epigenetics
Background TP53 mutations are linked to aggressive progression and chemoresistance in gastric cancer (GC). Frameshift mutation is the second most common mutation type of TP53. However, the consequences of this mutation type in GC were not well understood,
Suzeng Wang, Chunyu Yang, Junhui Tang, Kaiqing Wang, Hao Cheng, Surui Yao, Zhaohui Huang, Bojian Fei   +7 more
doaj   +1 more source

Variable phenotype expression with a frameshift mutation of the cardiac sodium channel gene SCN5A

Journal of Arrhythmia, 2013
Loss-of-function mutations in the cardiac sodium channel α-subunit gene SCN5A result in multiple inherited arrhythmic syndromes. This case report describes 2 unrelated probands carrying an identical SCN5A frameshift mutation, V1764fsX1786, who exhibited ...
Hiroshi Kawakami, MD, Takeshi Aiba, MD, PhD, Tadakatsu Yamada, MD, PhD, Hideki Okayama, MD, PhD, Yukio Kazatani, MD, PhD, Kyoko Konishi, MD, PhD, Ikutaro Nakajima, MD, Koji Miyamoto, MD, Yuko Yamada, MD, Hideo Okamura, MD, Takashi Noda, MD, PhD, Kazuhiro Satomi, MD, PhD, Shiro Kamakura, MD, PhD, Naomasa Makita, MD, PhD, Wataru Shimizu, MD, PhD   +14 more
doaj   +1 more source

A novel mutation in SACS gene in a family from southern Italy [PDF]

, 2004
A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Saguenay regions of Quebec. So far a frameshift and a nonsense mutation have been identified in the SACS gene. The authors report a new mutation (1859insC),
BANFI S, CRISCUOLO C, DE MICHELE, GIUSEPPE, FILLA, ALESSANDRO, GASPARINI P, MONTICELLI A, ORIO M, PERRETTI, ANNA CARMELA AGNESE, SANTORELLI FM, SANTORO, LUCIO, SCARANO V   +10 more
core  

Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. [PDF]

, 2015
Background: Hypertrophic cardiomyopathy (HCM) is a common genetic heart disorder characterized by unexplained left ventricle hypertrophy associated with non-dilated ventricular chambers.
BOTTILLO, IRENE, CAPUTO, VIVIANA, Castori, M, D'ANGELANTONIO, DANIELA, De Bernardo, C, Giannarelli, D, GRAMMATICO, Paola, LIPARI, MARTINA, Majore, S, PAIARDINI, ALESSANDRO, PIZZUTI, Antonio, Re, F, Zachara, E   +12 more
core   +1 more source