Results 231 to 240 of about 67,701 (309)

Single-cell omics data-driven decoding of tumor clonal evolution through reinforcement learning. [PDF]

Genome Med
He Q, Zhang Z, Wang Y, Du X, Xie C, Yang Y, Yang H, Yu Y, Yang M.   +8 more
europepmc   +1 more source

Effectiveness of Recombinant Human Growth Hormone Therapy in Small‐for‐Gestational‐Age Children With Short Stature: A Stratified Analysis Based on Genetic Variant Status

Clinical Endocrinology, EarlyView.
ABSTRACT Objective This study aimed to evaluate the impact of pathogenic genetic variants on growth outcomes following 3 years of recombinant human growth hormone (rhGH) therapy in children born small for gestational age with persistent short stature (SGA‐SS). Design A retrospective cohort study.
Sanghee Park, Yena Lee, Hwal Rim Jeong, Eun Young Kim, Eu‐seon Noh, Hye young Jin, Eun Byul Kwon, Hye Jin Lee, Young‐Jun Seo, Young Suk Shim, Su Jin Kim, Ji‐Eun Lee, Nan Young Kim, Sangkyoon Hong, Min Jae Kang, Il Tae Hwang   +15 more
wiley   +1 more source

Efficacy of anti-VEGF single-chain variable fragment AAV-based gene therapy in a laser-induced choroidal neovascularisation mouse model. [PDF]

Mol Ther Adv
Salman A, Griffiths H, Garba K, Lynn SA, Cree AJ, Szczepan M, Jashal CB, Chozhavel T M R, Rao P, Modi K, MacLaren RE, Yuen HM, Lotery AJ.   +12 more
europepmc   +1 more source

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants

Clinical Genetics, EarlyView.
SEMA6A plays a role in cell migration and axon guidance in the developing central nervous system. Phenotypes seen in eleven individuals heterozygous for SEMA6A variants included developmental delay, intellectual disability, autism/autistic behaviors, behavioral abnormalities, attention disorders, hypotonia, and brain anomalies.
Evan Burchfiel, Xiaonan Zhao, Nichole M. Owen, Tia Gordon, Mahshid S. Azamian, Eric C. Kao, Fan Xia, Xi Luo, Jill A. Rosenfeld, Seema R. Lalani, Allison P. Ortega, Steven B. Bleyl, Florence Petit, Sulekha Rajagopolan, Bénédicte Demeer, Meredith K. Gillespie, Lijia Huang, Matthew Osmond, Kym M. Boycott, Kyra E. Stuurman, Marjon A. van Slegtenhorst, Haley Soller, Céline Jost, Aurore Garde, Hana Safraou, Laurence Faivre, Victor Faundes, Daryl A. Scott   +27 more
wiley   +1 more source

Rapid prenatal CNV detection using nanopore technology. [PDF]

BMC Res Notes
Bhuwapathanapun M, Chaemsaithong P, Warintaksa P, Rerkamnuaychoke B, Parinayok R, Chareonsirisuthigul T, Hadradchai S, Prakobpanich M, Thammachote W, Jinawath N, Arigul T, Nimsamer P, Arayamethakorn S, Kaewkarn S, Jenjaroenpun P, Wongsurawat T.   +15 more
europepmc   +1 more source

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

Clinical Genetics, EarlyView.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen, Karen Grønskov, Line Kessel, Sarah Linea von Holstein, Lisbeth Birk Møller, Mette Kjøbæk Gundestrup Andersen, Marianne Søndergaard Khinchi, Steffen Hamann, Marianne Wegener, Mette Bertelsen   +9 more
wiley   +1 more source

Decoding clone evolution in HER2 amplified breast cancer through single-cell and spatial transcriptomics analysis of copy number variations. [PDF]

Sci Rep
Yang J, Li Y, Luo S, Wang J, Duan Y.
europepmc   +1 more source

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval

Clinical Genetics, EarlyView.
This study reports a female proband with a de novo 9q34.11 deletion affecting SET, who underwent a 28‐year diagnostic odyssey after an atypical Rett syndrome clinical diagnosis. Genomic and proteomics analyses confirmed SET haploinsufficiency, refining the critical 9q34.11 region, and supporting speech therapy benefits in improving meaningful ...
Angelo Condell, Elaine Zhang, Tim Sikora, Sean Massey, Nicole J. Van Bergen, Min Wang, Cas Simons, Katrina M. Bell, Daniella H. Hock, David A. Stroud, David Francis, Wendy A. Gold, Martin B. Delatycki, John Christodoulou, Simranpreet Kaur   +14 more
wiley   +1 more source

A study on cortical habituation based on event-related potential P50 and CNV. [PDF]

Front Neurol
Li J, Zhang Y, Li H, Liu C, Sun Z, Fu Y, He Q, Lv Y.   +7 more
europepmc   +1 more source

A Multicellular Coordinated Network Driving Lymphovascular Space Invasion in Endometrioid Endometrial Carcinoma

Cell Proliferation, EarlyView.
Single‐cell and spatial profiling reveal that lymphovascular space invasion in endometrioid endometrial carcinoma is driven by coordinated interactions among metastatic epithelium, fibroblasts, immune cells, and endothelium. This multicellular network promotes matrix remodelling, angiogenesis, and immune evasion, forming a pro‐metastatic niche that ...
Wendi Guo, Tianxiang Liu, Runling Ren, Na Li, Wenwen Zhang, Jingwen Si, Yongjun Piao, Yuanjing Hu   +7 more
wiley   +1 more source