Results 91 to 100 of about 5,754 (180)

Expanding the horizons of embryo screening: performance and case studies of preimplantation genetic testing via whole genome sequencing

Academia Molecular Biology and Genomics
Conventional preimplantation genetic testing for aneuploidy (PGT-A) and for monogenic disorders (PGT-M) is very limited in scope. These methods typically assess chromosomal ploidy or target only one or two specific variants carried by the ...
Benjamin Podgursky, Maria Katz, Shenglai Li, Thomas Giardina, Becca Girod, Dhruva Chandramohan, Qinnan Zhang, Michael Feinman, Barry Behr, Jerry Lanchbury, Noor Siddiqui, Funda Suer, Yuntao Xia   +12 more
doaj   +1 more source

The Long Haul: Microtubule Motors as the Essential Supply Line for Neuronal Longevity

Journal of Neurochemistry, Volume 170, Issue 6, June 2026.
To survive a lifetime, neurons depend on a high‐fidelity logistics network powered by microtubule motors. We explore how a broad spectrum of genetic defects in this machinery drive a devastating spectrum of neurodevelopmental and neurodegenerative diseases, including Hereditary Spastic Paraplegia (HSP), Charcot–Marie‐Tooth Type 2 (CMT2), and ...
Emma D. Turner, Alison E. Twelvetrees
wiley   +1 more source

Dynamics of Gene and Allelic Expression During Modern Hybrid Maize Breeding

Plant Biotechnology Journal, Volume 24, Issue 6, Page 3922-3938, June 2026.
ABSTRACT Maize breeding has greatly improved yield through single‐cross hybrids, but the underlying gene regulatory changes remain unclear. This study analysed transcriptomes of landmark maize hybrids and their parents across developmental stages and planting densities.
Xuyang Liu, Yongxiang Li, Chunhui Li, Dengfeng Zhang, Guanhua He, Hui Liu, Shumin Sun, Yu Li, Mei Guo, Tianyu Wang   +9 more
wiley   +1 more source

Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN

Molecular Genetics & Genomic Medicine
Background Congenital myasthenic syndrome is a heterogeneous group of inherited neuromuscular transmission disorders. Variants in RAPSN are a common cause of CMS, accounting for approximately 14%–27% of all CMS cases.
Zhiping Zhang, Xueluo Zhang, Huiqin Xue, Liming Chu, Lina Hu, Xingyu Bi, Pengfei Zhu, Dongdong Zhang, Jiayao Chen, Xiangrong Cui, Lingyin Kong, Bo Liang, Xueqing Wu   +12 more
doaj   +1 more source

Proband-independent haplotyping based on NGS-based long-read sequencing for detecting pathogenic variant carrier status in preimplantation genetic testing for monogenic diseases

Frontiers in Molecular Biosciences
Preimplantation genetic testing for monogenic diseases (PGT-M) can be used to select embryos that do not develop disease phenotypes or carry disease-causing genes for implantation into the mother’s uterus, to block disease transmission to the offspring ...
Peiyu Zhang, Xiaomei Zhao, Qinshan Li, Qinshan Li, Yaqiong Xu, Zengmei Cheng, Lu Yang, Houmei Wang, Yang Tao, Guanyou Huang, Rui Wu, Hua Zhou, Shuyun Zhao   +12 more
doaj   +1 more source

Clinical implications of rare and common variation in preimplantation genetic testing for breast cancer

npj Genomic Medicine
Recently, some clinics have begun using preimplantation genetic testing for monogenic disorders (PGT-M) for moderately penetrant breast cancer (BC) risk variants, while other clinics use polygenic risk scores (PRS) in the context of preimplantation ...
Todd Lencz, Upasana Bhattacharyya, Liraz Klausner, Jibin John, Shai Carmi   +4 more
doaj   +1 more source

Cost-effectiveness of IVF with PGT-M/A to prevent transmission of spinal muscular atrophy in offspring of carrier couples. [PDF]

J Assist Reprod Genet, 2023
Khorshid A, Boyd ALH, Behr B, Zhao Q, Alvero R, Bavan B.   +5 more
europepmc   +1 more source

Using preimplantation genetic testing for monogenic disease for preventing citrullinemia type 1 transmission

Frontiers in Genetics
AimThe aim of this study is to investigate if Preimplantation Genetic Testing (PGT) can effectively identify unreported variants according to American College of Medical Genetics and Genomics (ACMG)to prevent citrullinemia type 1 affection.DesignThis ...
Zubo Wu, Tao Liang, Yi Liu, Xiaofang Ding, Defeng Shu   +4 more
doaj   +1 more source

Successful preimplantation genetic testing for fibrodysplasia ossificans progressiva: a case report

Journal of Medical Case Reports
Purpose of the study Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant condition that leads to significant disability and morbidity, characterised by the formation of heterotopic hard tissues within connective tissues.
Sughashini Murugesu, Benjamin P. Jones, Paul Serhal, Jara Ben-Nagi   +3 more
doaj   +1 more source

Thin endometrial lining: is it more prevalent in patients utilizing preimplantation genetic testing for monogenic disease (PGT-M) and related to prior hormonal contraceptive use? [PDF]

Hum Reprod, 2023
Homminga I, Ter Meer AF, Groen H, Cantineau AEP, Hoek A.   +4 more
europepmc   +1 more source