Results 51 to 60 of about 4,011,809 (261)

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families [PDF]

, 2010
Isolated complex I deficiency is the most frequently observed oxidative phosphorylation defect in children with mitochondrial disease, leading to a diverse range of clinical presentations, including Leigh syndrome.
Mazhor Al-Dosary, Worgan, L, Jones, S, Robert W. Taylor, Lisa Worgan, Saretzki, G, Mansour, S, Sahar Mansour, Michael Clarke, David R. Thorburn, Robert McFarland, Thorburn, DR, Vanessa E. Hogan, Emma L. Blakely, Al-Dosary, M, Simon Jones, Hogan, VE, Devlin, AM, Langping He, Tuppen, HAL, Gabriele Saretzki, Alston, CL, Blakely, EL, Morris, AA, Charlotte L. Alston, Taylor, RW, Tuppen, HA, Chrzanowska-Lightowlers, ZMA, Zofia M. A. Chrzanowska-Lightowlers, Andrew A. Morris, Chrzanowska-Lightowlers, ZM, Clarke, M, Anita M. Devlin, Helen A. L. Tuppen, He, L, McFarland, R   +35 more
core   +1 more source

Association between DIAPH1 variant and posterior circulation involvement with Moyamoya disease

Scientific Reports, 2023
Moyamoya disease (MMD) is a chronic and progressive cerebrovascular stenosis or occlusive disease that occurs near Willis blood vessels. The aim of this study was to investigate the mutation of DIAPH1 in Asian population, and to compare the angiographic ...
Shihao He, Xiaokuan Hao, Ziqi Liu, Yanru Wang, Junze Zhang, Xilong Wang, Fei Di, Rong Wang, Yuanli Zhao   +8 more
doaj   +1 more source

An isoform of 14‐3‐3 protein regulates transbilayer lipid movement at the plasma membrane

FEBS Letters, EarlyView.
Loss of 14‐3‐3ζ in CHO cells confers resistance to exogenous phosphatidylserine (PS) and impairs endocytosis‐independent inward flip‐flop of fluorescent PS at the plasma membrane. RNAi‐mediated knockdown reproduces this defect, while no additive effect is seen in ATP11C‐deficient cells.
Akiko Yamaji‐Hasegawa, Akira Hattori, Masafumi Tsujimoto, Toshihide Kobayashi   +3 more
wiley   +1 more source

Further genetic heterogeneity for autosomal dominant human sutural cataracts [PDF]

, 2003
A unique sutural cataract was observed in a 4-generation German family to be transmitted as an isolated autosomal, dominant trait. Since mutations in the gamma-crystallin encoding CRYG genes have previously been demonstrated to be the most frequent ...
Graw, Jochen, Illig, T., Billingsley, G., Wjst, M., Graw, J., Rudolph, G., Klopp, N., Heon, E., Klopp, N.;Heon, E.;Billingsley, G.;Illig, T.;Wjst, M.;Rudolph, G.;Graw, J.   +8 more
core   +1 more source

Development of somatic mutation signatures for risk stratification and prognosis in lung and colorectal adenocarcinomas

BMC Medical Genomics, 2019
Background Prognostic signatures are vital to precision medicine. However, development of somatic mutation prognostic signatures for cancers remains a challenge.
Mark Menor, Yong Zhu, Yu Wang, Jicai Zhang, Bin Jiang, Youping Deng   +5 more
doaj   +1 more source

Association Between Patient Characteristics and Diet Profile with Kirsten rat sarcoma Kras and Neuroblastoma rat sarcoma (Nras) Gene Mutation in Colorectal Cancer

The Indonesian Journal of Gastroenterology, Hepatology and Digestive Endoscopy, 2020
Background: Colorectal cancer is the third most common cancer according to American Cancer Society. It is also the third most common cause of death in men and women in US.
Dedy Indra Praja, Helena Helena, Bogi Pratomo   +2 more
doaj   +1 more source

The human gut microbiome across the life course

FEBS Letters, EarlyView.
Despite significant individual variation and continuous change throughout life, the human gut microbiome follows some life stage‐specific trends. This article provides a brief overview of how gut microbiome composition shifts across different phases of life. Created in BioRender. Özkurt, E. (2026) https://BioRender.com/8q4nrnc.
Alise J. Ponsero, Basak Bahcivanci, Antonietta Hayhoe, Animesh Acharjee, Ezgi Özkurt   +4 more
wiley   +1 more source

Early onset of colorectal cancer in a 13-year-old girl with Lynch syndrome [PDF]

Korean Journal of Pediatrics, 2016
Lynch syndrome is the most common inherited colon cancer syndrome. Patients with Lynch syndrome develop a range of cancers including colorectal cancer (CRC) and carry a mutation on one of the mismatched repair (MMR) genes.
Do Hee Ahn, Jung Hee Rho, Hann Tchah, In-Sang Jeon   +3 more
doaj   +1 more source

Frequency of Mutation katG S315T Mycobacterium Tuberculosis in Multi Drug Resistance Tuberculosis Patients in South Sumatera

International Journal of Infectious Diseases, 2022
Purpose: Indonesia is ranked as the fifth highest case of MDR TB in the world. MDR TB occurs due to resistance to Rifampicin and INH drugs caused by mutations in the M.Tb gene.
A. Fathurrachman, R.L. Andriani, Z. Ahmad   +2 more
doaj   +1 more source

Septin 9 PB domains coordinate centrosome positioning and microtubule acetylation to control epithelial polarity

FEBS Letters, EarlyView.
Septin 9 polybasic domains couple phosphoinositide‐rich membrane binding to centrosome positioning, Golgi organization, and microtubule acetylation to control epithelial polarity. Their loss disrupts this axis, causing centrosome mispositioning, Golgi fragmentation, reduced microtubule acetylation, and polarity inversion via upregulation of the ...
Ting ting Cai, Mohyeddine Omrane, Nassima Benzoubir, Didier Samuel, Ama Gassama‐Diagne   +4 more
wiley   +1 more source