Results 141 to 150 of about 314,830 (333)

Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1. [PDF]

, 2018
Whole exome sequencing (WES) was used to determine the etiology of recurrent hydrops fetalis in this case of Hennekam lymphangiectasia-lymphedema syndrome-1.
Andreasen, Tara S, Lamale-Smith, Leah M, Mao, Rong, Melber, Dora J, Miller, Christine E, Moore, Thomas R, Tvrdik, Tatiana, Woelkers, Douglas A   +7 more
core  

Attenuated Nuclear Tension Regulates Progerin‐Induced Mechanosensitive Nuclear Wrinkling and Chromatin Remodeling

Advanced Science, EarlyView.
The premature aging‐related progerin leads to defective nuclear morphology and is associated with disrupted molecular coupling between the extranuclear cytoskeleton and lamin‐associated nuclear envelope. It is discovered that progerin expression reduces nuclear tension, forms nuclear wrinkling, and enhances chromatin dynamics, thereby regulating ...
Ji‐Eun Park, Juhyeon Jo, Kun Xu, Sun‐Ah Lee, Seong‐Beom Han, YigJi Lee, Won‐Ki Cho, Bo Li, Soo Hyun Kim, Dong‐Hwee Kim   +9 more
wiley   +1 more source

Evidence of a locus for schizophrenia and related disorders on the short arm of chromosome 5 in a large pedigree [PDF]

, 1996
Jeremy M. Silverman, David A. Greenberg, Larry D. Altstiel, Larry J. Siever, Richard C. Mohs, Christopher J. Smith, Guilan Zhou, Tovah E. Hollander, Xin-Ping Yang, Medhi Kedache, Ge Li, Michele Zaccario, Kenneth L. Davis   +12 more
openalex   +1 more source

GENETIC TESTING PRACTICES OF GENETIC COUNSELORS, GENETICISTS, AND PEDIATRIC NEUROLOGISTS WITH REGARD TO CHILDHOOD-ONSET NEUROGENETIC CONDITIONS [PDF]

, 2018
Identifying genetic diagnoses for neurological conditions with a considerable hereditary component, such as autism spectrum disorder (ASD), intellectual disability, and epilepsy, is critical to providing proper medical management for these patients and ...
Wofford, Sara
core   +1 more source

deepTFBS: Improving within‐ and Cross‐Species Prediction of Transcription Factor Binding Using Deep Multi‐Task and Transfer Learning

Advanced Science, EarlyView.
DeepTFBS leverages deep learning to predict transcription factor binding sites across species, integrating multi‐task and transfer learning approaches to improve performance in data‐scarce scenarios. This study demonstrates enhanced accuracy in intra‐ and cross‐species prediction, revealing conserved regulatory patterns and functional variants.
Jingjing Zhai, Yuzhou Zhang, Chujun Zhang, Xiaotong Yin, Minggui Song, Chenglong Tang, Pengjun Ding, Zenglin Li, Chuang Ma   +8 more
wiley   +1 more source

Preimplantation diagnosis: an alternative to prenatal diagnosis of genetic and chromosomal disorders. International Working Group on Preimplantation Genetics. [PDF]

, 1999
Yury Verlinsky
openalex   +1 more source

Targeted Intervention Strategies for Maternal–Offspring Transmission of Christensenellaceae in Pigs via a Deep Learning Model

Advanced Science, EarlyView.
This study deciphers maternal‐driven microbial transmission in pigs using a deep learning model (maternal–offspring microbial transmission model), identifying Christensenellaceae R‐7 group as a key transmitted taxon. Filtered galacto‐oligosaccharides‐targeted Christensenellaceae R‐7 group alters offspring microbial functions via maternal ...
Haibo Shen, Xiaokang Ma, Longlin Zhang, Hao Li, Jichang Zheng, Shengru Wu, Ke Zuo, Yulong Yin, Jing Wang, Bie Tan   +9 more
wiley   +1 more source

Neuronal FGF13 Inhibits Mitochondria‐Derived Damage Signals to Prevent Neuroinflammation and Neurodegeneration in a Mouse Model of Parkinson's Disease

Advanced Science, EarlyView.
This study elucidates a novel role of FGF13 in manipulating neuronal fate via mitochondrial transfer. FGF13 is identified as a mitochondria‐stabilizing protein by interacting with mitochondrial proteins. Under stress, the decrease of neuronal FGF13 fails to retain mitochondria within the cytoplasm, leading to the release of damaged mitochondria to ...
Nanshan Song, Xiangxu Wang, Luqing Ha, Lamei Hu, Shuyuan Mei, Yue Liang, Yujie Zhao, Xingyin Yang, Qingyu Zhang, Yuanzhang Zhou, Jianhua Ding, Yan Liu, Qigang Zhou, Feng Han, Gang Hu, Ming Lu   +15 more
wiley   +1 more source

Chromosomal Studies in Normal Human Subjects and in 300 Cases of Congenital Disorders Part II

, 1964
Sajiro Makino
openalex   +2 more sources

Human male infertility: chromosome anomalies, meiotic disorders, abnormal spermatozoa and recurrent abortion [PDF]

, 2000
Susana Egozcue
openalex   +1 more source