Results 81 to 90 of about 111,505 (234)

Genetic Evaluation of Early Pregnancy Loss by Chromosomal Microarray Analysis: A Retrospective Analysis

Clinical and Experimental Obstetrics & Gynecology
Background: Chromosomal abnormalities constitute the predominant genetic etiology of early pregnancy loss; however, conventional karyotyping analysis fails to detect submicroscopic genomic imbalances or regions of homozygosity (ROH ...
Hu Ding, Honglei Duan, Xiangyu Zhu, Wei Liu, Leilei Gu, Chunxiang Zhou, Jie Li   +6 more
doaj   +1 more source

Chromosome abnormalities [PDF]

Nature, 1983
openaire   +2 more sources

Maize Anther Development Involves Translated Open Reading Frames From 3′ Untranslated Regions

Advanced Science, EarlyView.
This study examined the translation activity across ten stages of maize anther development, integrating transcriptome and small‐peptide data. It linked mutations in translated 3' ORFs to anther sterility, exemplified by Zm00001eb417050_3' ORF (known as APV1). In addition, the data indicated that maize anthers could assimilate CO2 through the stomata in
Chunyu Wang, Yuechao Wu, Shunxi Wang, Han Liu, Siqi Jiang, Yingjia Han, Liuji Wu, Tao Zhang, Mei Zhang   +8 more
wiley   +1 more source

Endometrial Epithelial Lactate Deficiency Drives CD8+ T‐Cells Dysregulation in Unexplained Recurrent Implantation Failure

Advanced Science, EarlyView.
Unexplained recurrent implantation failure (RIF) represents a significant clinical challenge. Our results demonstrate that reduced lactate production in the RIF endometrium impairs the suppression of cytotoxic CD8+ T‑cells, allowing their proliferation and thereby disrupting the local immune balance essential for successful embryo implantation.
Yuanlin He, Kang Ke, Qingxia Meng, Yichun Guan, Jichun Tan, Hong Lv, Boxian Huang, Chan Tian, Qinyan Zou, Mingxing An, Yao Gao, Jingjing Chen, Xiaoyu Wei, Xi Wang, Hongxia Ma, Yuan Lin, Feiyang Diao, Yayun Gu, Zhibin Hu   +18 more
wiley   +1 more source

Pyroptosis‐Inducing Engineered Microparticles for Cancer Immunotherapy

Advanced Science, EarlyView.
Engineered microparticles co‐delivering geldanamycin and dual nanobodies induce targeted pyroptosis and block PD‐L1 and CD47 pathways, reprogramming the tumor microenvironment and achieving potent antitumor immunity in lung cancer models with minimal toxicity.
Tianli Hao, Zihan Deng, Yufei Liu, Li Liu, Deqiang Deng, Muyang Yang, Yuanyuan Geng, Yao Sun, Beilei Yue, Jonathan F. Lovell, Yushuai Liu, Lisen Lu, Honglin Jin   +12 more
wiley   +1 more source

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai   +6 more
wiley   +1 more source

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source