Results 41 to 50 of about 1,383 (138)

The implementation and utility of clinical exome sequencing in a South African infant cohort

Frontiers in Genetics, 2023
Genetic disorders are significant contributors to infant hospitalization and mortality globally. The early diagnosis of these conditions in infants remains a considerable challenge.
L. Campbell, J. Fredericks, K. Mathivha, P. Moshesh, A. Coovadia, P. Chirwa, B. Dillon, A. Ghoor, D. Lawrence, L. Nair, N. Mabaso, D. Mokwele, M. Novellie, A. Krause, N. Carstens, N. Carstens   +15 more
doaj   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Vacuolization as a Novel Approach to Cancer Therapy

Journal of Biochemical and Molecular Toxicology, Volume 40, Issue 6, June 2026.
This review discusses the novel strategy of inducing vacuole formation in cancer cells using small molecules, that induce nonapoptotic cell death mechanisms, such as paraptosis, oncosis, autophagy, and methuosis, and its potential in overcoming resistance to apoptosis‐based cancer therapies.
Mariah Pasternak, Noor Hussein, Veronica Piedra, Saloni Malla, Chandrabose Karthikeyan, Haneen Amawi, Harish Rajak, Charles R. Ashby Jr., R. Jayachandra Babu, Amit K. Tiwari   +9 more
wiley   +1 more source

Confirmation of Exome Sequencing Results Using Sanger Sequencing—Considerations in a Low‐Resource Setting

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
In our African developmental disorder cohort, high confidence variants in the first 64 probands that underwent ES were confirmed using Sanger sequencing. Our study suggests that confirming exome sequencing results with an orthogonal approach like Sanger sequencing is unnecessary in a resource‐limited setting, when robust, context‐informed quality ...
Nadja Louw, Samantha Schnell, Mhlekazi Molatoli, Ingrid Smit, Robyn Kerr, Koen Devriendt, Aimé Lumaka, Amanda Krause, Nadia Carstens, Zané Lombard, for DDD‐Africa as members of the H3Africa Consortium   +10 more
wiley   +1 more source

A novel Rho-like protein TbRHP is involved in spindle formation and mitosis in trypanosomes.

PLoS ONE, 2011
BackgroundIn animals and fungi Rho subfamily small GTPases are involved in signal transduction, cytoskeletal function and cellular proliferation. These organisms typically possess multiple Rho paralogues and numerous downstream effectors, consistent with
Kanwal Abbasi, Kelly N DuBois, Ka Fai Leung, Joel B Dacks, Mark C Field   +4 more
doaj   +1 more source

Investigating the Role of OCRL, the Gene Mutated In Lowe Syndrome, in Neurons

, 2020
Lowe syndrome, also known as Oculo-Cerebro-Renal syndrome of Lowe, is a rare X-linked condition that primarily affects the eye, the nervous system and the kidney. OCRL, the gene mutated in Lowe syndrome, encodes an homonymous protein called OCRL which is an inositol polyphosphate 5-phosphatase acting preferentially on PtdIns(4,5)P2.
openaire   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Lowe syndrome identified in the offspring of an oocyte donor who was an unknown carrier of a de novo mutation: a case report and review of the literature

Journal of Medical Case Reports, 2019
Background Oculocerebrorenal syndrome of Lowe is an X-linked disorder with very low prevalence in the general population. The OCRL gene encodes the protein phosphatidylinositol 4,5-bisphosphate-5-phosphatase, a lipid phosphatase, located in the trans ...
P. Tatsi, G. E. Papanikolaou, T. Chartomatsidou, I. Papoulidis, A. Athanasiadis, R. Najdecki, E. Timotheou   +6 more
doaj   +1 more source

AlphaFold‐driven discovery of oxysterol‐binding protein‐related protein‐phosphoinositide 3‐, 4‐, and 5‐phosphatase interactions using new generation confidence scores

Protein Science, Volume 35, Issue 5, May 2026.
Abstract Non‐vesicular lipid transport contributes to the regulation of membrane composition and organelle function at membrane contact sites. OSBP‐related proteins (ORPs) are central to this process, yet their interaction networks remain incompletely defined. Here, we systematically screened potential interactions between ORPs and phosphoinositide 3‐,
Filippo Dall'Armellina, Sylvie Urbé, Daniel J. Rigden   +2 more
wiley   +1 more source

Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis

Scientific Reports, 2017
Mutations in the OCRL1 gene result in the oculocerebrorenal syndrome of Lowe, with symptoms including congenital bilateral cataracts, glaucoma, renal failure, and neurological impairments.
Emilie Song, Na Luo, Jorge A. Alvarado, Maria Lim, Cathleen Walnuss, Daniel Neely, Dan Spandau, Alireza Ghaffarieh, Yang Sun   +8 more
doaj   +1 more source