Results 101 to 110 of about 314,978 (365)

Genome-wide Mendelian randomization and single-cell RNA sequencing analyses identify the causal effects of COVID-19 on 41 cytokines [PDF]

, 2022
Chao Wang, Rui Yu, Sainan Zhang, Yue Zhao, Changlu Qi, Zijun Zhu, Xinyu Chen, Jianxing Bi, Peigang Xu, Liang Cheng, Xue Zhang   +10 more
openalex   +1 more source

Integrative Omics Defines Metabolic Biomarkers and Genetic Regulatory Mechanisms of Mortality Risk

Advanced Science, EarlyView.
Understanding mortality mechanisms remains a fundamental challenge. Through multi‐omics analysis of a three‐generation chicken model, are identified 45,585 mQTLs and establish a 16‐metabolite predictor of mortality. An inflammation‐growth trade‐off and evolutionarily conserved pathways involving butyrate–microbiota interactions and L‐cysteine's dual ...
Peihao Liu, Bingxing An, Jumei Zheng, Qiao Wang, Zhirui Yang, Zhengda Li, Dawei Liu, Fan Ying, Jie Wen, Lingzhao Fang, Guiping Zhao   +10 more
wiley   +1 more source

Presume It Not: True Causes in the Search for the Basis of Heredity [PDF]

, 2017
Kyle Stanford has recently given substance to the problem of unconceived alternatives, which challenges the reliability of inference to the best explanation (IBE) in remote domains of nature.
Novick, Aaron, Scholl, Raphael
core   +1 more source

An ITPR1 Variant in the IP3‐ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S. Arterbery, Anita M. Bagley, Michael A Gargano, Jeremy P Bauer, Daniel Danis, Philip Giampietro, Ellen Raney, Lauren Rekerle, Mallory Shingle, Jon R. Davids, Peter N. Robinson   +12 more
wiley   +1 more source

Gene panel for Mendelian strokes

Stroke and Vascular Neurology, 2020
Background Mendelian stroke causes nearly 7% of ischaemic strokes and is also an important aetiology of cryptogenic stroke. Identifying the genetic abnormalities in Mendelian strokes is important as it would facilitate therapeutic management and genetic ...
doaj   +1 more source

Mendel paved the path toward understanding genetic diseases

Egyptian Journal of Medical Human Genetics, 2022
Background July 20th, 2022, marks the 200th anniversary of the “Father of Genetics,” Gregor Mendel’s birth. His experiments with pea plants established the fundamental principles of genetic inheritance.
Sreejon Sundar Das
doaj   +1 more source

Using GWAS Data to Identify Copy Number Variants Contributing to Common Complex Diseases

, 2010
Copy number variants (CNVs) account for more polymorphic base pairs in the human genome than do single nucleotide polymorphisms (SNPs). CNVs encompass genes as well as noncoding DNA, making these polymorphisms good candidates for functional variation ...
Teslovich, Tanya M., Zöllner, Sebastian
core   +1 more source

Clinically Irrelevant Terminal 16q21 Deletion Detected by NIPT Is Attributable to Inherited Fragility at FRA16B

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genome‐wide non‐invasive prenatal testing (NIPT) is a powerful tool for prenatal detection of the common aneuploidies causing Down‐, Edwards‐, and Patau syndrome. Its genome‐wide reach also enables the detection of unbalanced structural chromosomal abnormalities.
Servi J. C. Stevens, Wanwisa van Dijk, Nicole Y. Souren, Merryn V. E. Macville, Guillaume van de Zande, Brigitte H. W. Faas, Bart de Koning, Arthur van den Wijngaard, Sonja de Munnik, Masoud Zamani Esteki   +9 more
wiley   +1 more source

Mendelian randomisation studies for causal inference in chronic obstructive pulmonary disease: A narrative review

Pulmonology
Background and objective Most non-randomised controlled trials are unable to establish clear causal relationships in chronic obstructive pulmonary disease (COPD) due to the presence of confounding factors.
Zizheng Chen, Yuqiong Yang, Chusheng Peng, Zifei Zhou, Fengyan Wang, Chengyu Miao, Xueping Li, Mingdie Wang, Shengchuan Feng, Tingnan Chen, Rongchang Chen, Zhenyu Liang   +11 more
doaj   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source