Results 81 to 90 of about 1,791,159 (252)

Genome-Wide Testing of Exonic Variants and Breast Cancer Risk in the California Teachers Study

, 2017
Background: Few studies have focused on the relationship of exonic variation with breast cancer and subtypes defined by tumor markers: estrogen receptor (ER), progesterone receptor (PR), and HER2.
Huiyan Ma, Argyrios Ziogas, John Charles A. Lacson, Peggy Reynolds, Hoda Anton-Culver, Leslie Bernstein, Dennis M. Deapen, Susan L. Neuhausen, Fredrick R. Schumacher, Eunjung Lee, David O. Nelson, David Van Den Berg   +11 more
core   +1 more source

Matrix Rigidity Mechanoprimes Microglia for Inflammation Through Cytoskeletal‐to‐Nuclear Signaling and 3D Spatio‐Epigenomic Remodeling

Advanced Science, EarlyView.
Pathological tissue rigidity mechanoprimes microglia by enhancing actin cytoskeleton–nucleus coupling and chromatin opening at rigidity‐responsive cis‐regulatory elements (mechanoCREs). Subsequent NF‐κB/p65 signaling converges on this permissive regulatory state to amplify inflammatory gene expression and microglial activation.
Yu Xuan Meng, Jaegeon Joo, Yu Meng Li, Cheng Ji Li, Ali Taghizadeh, Seung Jae Shin, Buuvee Bayarkhangai, Tae‐Woo Ha, Sak Lee, Jaewoo Chung, Bo‐Eun Yoon, Hye Sung Kim, Inkyung Jung, Jung‐Hwan Lee, Kam W. Leong, Hae‐Won Kim   +15 more
wiley   +1 more source

FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia

Blood Advances
Key Points • An exonic FANCA variant, c.3624C>T, predicted to be synonymous (p.Ser1208=), induces a pathogenic splicing defect.• The pathogenic variant is hypomorphic, resulting in low level of normal splicing, which delays the onset of Fanconi anemia.
Ramanagouda Ramanagoudr-Bhojappa, Rebecca K. Tryon, Francis P. Lach, F. Donovan, Rochelle Maxwell, A. Rosenberg, M. MacMillan, John E Wagner, A. D. Auerbach, A. Smogorzewska, S. Chandrasekharappa   +10 more
semanticscholar   +1 more source

MOLECULAR IDENTIFICATION AND FUNCTIONAL CHARACTERIZATION OF A MITOCHONDRIAL SUR2 SPLICE VARIANT GENERATED BY INTRA-EXONIC SPLICING

Circulation Research, 2009
Rationale: Cardioprotective pathways may involve a mitochondrial ATP-sensitive potassium (mitoKATP) channel but its composition is not fully understood.
B. Ye, Stacie Kroboth, J. Pu, Jason Sims, Nitin T. Aggarwal, E. McNally, J. Makielski, Nian-Qing Shi   +7 more
semanticscholar   +1 more source

Transposable Element Dynamics Drive the Genomic Evolution and Phenotypic Diversification of Allotetraploid Common Carp

Advanced Science, EarlyView.
By integrating 516 whole‐genome resequencing datasets and 236 transcriptomes of allotetraploid common carp, this study establishes the first population‐scale atlas of transposable element (TE) variation in teleost species. TE bursts, relaxed purifying selection, and lineage‐specific loss of ancient insertions shape genome evolution and phenotypic ...
Shuimu Hu, Zhou Jiang, Lin Chen, Gowena Ling Yi Goh, Weijing Li, Qian He, Xintong Chen, Rui Li, Yuxuan Liu, Ning Li, Tao Zhou, Peng Xu   +11 more
wiley   +1 more source

WFS1 Deficiency Impairs PIAS4‐Associated SUMOylation and Increases Ubiquitin‐Mediated Spermatogenesis‐Related Protein Degradation Leading to Testicular Male Infertility

Advanced Science, EarlyView.
The findings establish a critical role for WFS1 in human male fertility. Mechanistically, WFS1 interacts with PIAS4 to promote the SUMOylation of key spermatogenesis‐associated proteins, which in turn competitively inhibits their K48‐linked ubiquitin‐mediated degradation during spermatogenesis.
Yunchuan Tian, Guicheng Zhao, Xiang Wang, Xinyao Tang, Gan Shen, Tiechao Ruan, Chuan Jiang, Shikun Zhao, Jincheng Zhang, Xinyue Cui, Liangchai Zhuo, Jun Ma, Yihong Yang, Tingting Lin, Ying Shen   +14 more
wiley   +1 more source

scH16S‐Seq Maps Klebsiella pneumoniae‐Associated Myeloid States and Reveals a CD38–NAD Immunometabolic Axis That Impairs Lysosomal Acidification in Sepsis

Advanced Science, EarlyView.
Single‐cell host–bacterial 16S co‐sequencing (scH16S‐seq) integrates cell‐associated bacterial 16S‐derived signals with host transcriptomes to resolve bacterial signal‐enriched myeloid states in Klebsiella pneumoniae sepsis. Complementary pharmacological and genetic analyses define a CD38–NAD immunometabolic axis connecting mitochondrial bioenergetic ...
Yangguang Li, Yilong Yu, Fang Qin, Shenxing Li, Xuanheng Li, Peizhao Liu, Juanhan Liu, Haiqing Liu, Songqi Jing, Jianghao Zou, Sicheng Li, Jiayang Li, Tao Zheng, Yun Zhao, Jianan Ren, Xiuwen Wu   +15 more
wiley   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila, Sara Fernández, Maximiliano Zeballos, María Georgina Poggio   +3 more
wiley   +1 more source

Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements

Human Mutation, 2020
Discriminating which nucleotide variants cause disease or contribute to phenotypic traits remains a major challenge in human genetics. In theory, any intragenic variant can potentially affect RNA splicing by altering splicing regulatory elements (SREs ...
Hélène Tubeuf, C. Charbonnier, O. Soukarieh, André Blavier, A. Lefebvre, H. Dauchel, T. Frebourg, P. Gaildrat, A. Martins   +8 more
semanticscholar   +1 more source