Results 81 to 90 of about 54,834 (268)

Prenatal diagnosis and molecular cytogenetic characterization of two hereditary chromosomal duplications with favorable outcomes

Clinical and Experimental Obstetrics & Gynecology, 2020
The objective of this study was to report two cases of hereditary chromosomal duplications with favorable outcomes. In both cases, conventional karyotyping showed a normal karyotype.
Y.J. Wu, C.J. Yu, W.H. Tian, Z. Xu
doaj   +1 more source

A Coding SNP in GmPM30 Enhances Soybean Salinity Tolerance and Yield through the GmLEA1‐GmPM30‐GmLEC1 Module

Advanced Science, EarlyView.
A natural variation in soybean PM30, GmPM30‐HapT, confers greater salt tolerance than GmPM30‐HapC via stronger GmLEA1‐GmPM30‐GmLEC1 interactions. Pyramiding their elite haplotypes yields additive gains in salt tolerance and yield, establishing a novel workflow linking evolutionary genomics, molecular mechanisms, and breeding applications via the module
Shiyu Huang, Yuhan Xia, Jingting Yang, Yujun Si, Xue Chen, Hao Zhang, Tianshi Liu, Wenyu Zheng, Xin Chen, Zhongjuan Zhao, Xiaojian Zheng, Qing Lu, Shuo Li, Fengning Xiang   +13 more
wiley   +1 more source

Chromosomal microarray analysis of ovum material in tubal pregnancy

Perm Medical Journal, 2020
Objective. To determine the significance of chromosomal aberrations in ectopic pregnancy. An ectopic pregnancy is a complication that occurs in approximately 12 % of all pregnancies and can cause morbidity and mortality in women of childbearing age.
G. K. Sadykova, A. A. Olina
openaire   +3 more sources

Polycystin‐1 Mutant Alters Mechanotransduction in Response to Collagen and Extracellular Matrix Stiffness via Daam1‐Dependent Microfilament Remodeling

Advanced Science, EarlyView.
Polycystin‐1 (PC1) senses collagen and ECM stiffness to promote tumor migration via Daam1‐mediated actin remodeling. A cleavage‐resistant PC1 mutant enhances YAP nuclear translocation and CTGF expression, which activates CAFs and further stiffens the ECM, forming a feed‐forward loop that drives tumor progression and metastasis.
Jiaofeng Zhou, Yibing Deng, Jie Mei, Mengyun Wan, Ningyi Xue, Xinyu Zong, Ji Zhou, Junli Ding, Ting Yan, Yu Jiang, Tiansong Xia, Peng Zheng, Yichao Zhu   +12 more
wiley   +1 more source

Single‐Cell Nucleus Extraction with Cellular Indexing

Advanced Science, EarlyView.
VacTrap is a multilayer, high‐throughput microfluidic system that isolates and spatially indexes single nuclei from hundreds of cells within minutes. Using dissolvable hydrogel trapdoors triggered by chemical and vacuum actuation, VacTrap synchronously transfers nuclei while preserving spatial links to parent cells.
Trinh Lam, Ana Esmeralda Gomez Martinez, Alison Su, Anna Fomitcheva‐Khartchenko, Xin Wang, Md Nazibul Islam, Paul Lum, Amy Elizabeth Herr   +7 more
wiley   +1 more source

Chromosomal abnormalities and copy number variations in fetal ventricular septal defects

Molecular Cytogenetics, 2018
Background This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior prenatal genetic counseling and to ...
Meiying Cai, Hailong Huang, Linjuan Su, Na Lin, Xiaoqing Wu, Xiaorui Xie, Gang An, Ying Li, Yuan Lin, Liangpu Xu, Hua Cao   +10 more
doaj   +1 more source

Identifying Key Questions and Challenges in Microchimerism Biology

Advanced Science, EarlyView.
This study identifies key unanswered questions about microchimerism, the presence of cells from one individual living in another. Experts highlight how these cells may affect health, pregnancy, and disease. This study outlines research priorities and challenges in detecting and studying these rare microchimeric cells, aiming to guide future discoveries
Kristine J. Chua, Rachel C. Quilang, Katja Sallinger, Christina Athena Aktipis, Petra Arck, Diana W. Bianchi, Hyun‐Dong Chang, Henderson J. Cleaves II, Michael Eikmans, Heidi E. S. Fjeldstad, David Haig, Whitney E. Harrington, William Horsnell, Daniel P. Jacobsen, Mads Kamper‐Jørgensen, Sami B. Kanaan, Kiarash Khosrotehrani, Nathalie C. Lambert, Jane Lee Nelson, Maria B. Olsen, Tiffany D. Pan, Jelmer R. Prins, Frank A. Schildberg, Anne Cathrine Staff, Anders Ståhlberg, Ina A. Stelzer, Christopher Urbschat, Sing Sing Way, Melissa A. Wilson, Jody Ye, Thomas Kroneis, Amy M. Boddy   +31 more
wiley   +1 more source

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison, Ruth Braden, David J. Amor, Angela T. Morgan   +3 more
wiley   +1 more source

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger, Martijn V. Verhagen, Tuula Rinne, Hermine E. Veenstra‐Knol   +3 more
wiley   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source