Results 121 to 130 of about 96,085 (345)

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

Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene [PDF]

, 2014
In this paper we described the first Polish patient with ferroportin disease. Hereditary haemochromatosis (HH) is a condition associated with universal iron overload, and it is divided into four types, according to the Online Mendelian Inheritance in Man
Caleffi, Angela, Milkiewicz, Piotr, PIETRANGELO, Antonello, Raszeja Wyszomirska, Joanna   +3 more
core   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Amyloid prions in fungi [PDF]

, 2016
Prions are infectious protein polymers that have been found to cause fatal diseases in mammals. Prions have also been identified in fungi (yeast and filamentous fungi), where they behave as cytoplasmic non-Mendelian genetic elements.
Aguzzi, Aguzzi, Aigle, Alberti, Aron, Balguerie, Ball, Bardill, Baudin-Baillieu, Baxa, Baxa, Borchsenius, Brachmann, Bradley, Brown, Byers, Cai, Chakrabortee, Chen, Chernoff, Collinge, Coustou, Coustou-Linares, Cox, Daskalov, Daskalov, Daskalov, Daskalov, Derkatch, Derkatch, Derkatch, Diaz-Avalos, DiSalvo, Douglas, Eichner, Espinosa Angarica, Fan, Garcia, Glover, Glover, Gorkovskiy, Griswold, Habenstein, Halfmann, Halfmann, Harrison, Higurashi, Holmes, Huang, Jarosz, Jarosz, Jung, Kabir, Kajava, Kajava, Kelly, King, King, Koch, Kochneva-Pervukhova, Krishnan, Kryndushkin, Kumar, Kunz, Lancaster, Li, Lum, Malato, Masel, Masison, Masison, Mathur, McGlinchey, Mizuno, Nakayashiki, Nelson, Newnam, Ohhashi, Patel, Patino, Paushkin, Prusiner, Rajon, Ritter, Rizet, Roberts, Ross, Ross, Schlieker, Schlumpberger, Sen, Seuring, Shewmaker, Shorter, Sondheimer, Sondheimer, Speldewinde, Stein, Taneja, Tapia, Tessier, Tipton, Tompa, Toyama, True, True, Tsai, Tycko, Tyedmers, Uptain, Van Melckebeke, Verges, Wan, Wasmer, Watts, Westergard, Wickner, Wickner, Wickner, Wickner, Wickner, Wickner, Zhou   +122 more
core   +2 more sources

Deciphering the Potential Causal and Prognostic Relationships Between Gut Microbiota and Brain Tumors: Insights from Genetics Analysis and Machine Learning

Exploration, EarlyView.
The causal relationship between gut microbiota and brain tumors and potential prognostic value of microbiota are still unclear. This study confirmed the causal effects of specific gut microbiota on three common brain tumors and identified microbe‐related genes that are expressed in brain tissue and correlated with the abundance of gut microbiota ...
Changwu Wu, Fushu Luo, Yongye Zhu, Chunbo Liu, Zheng Chen, Xiangyu Wang, Jun Tan, Qing Liu   +7 more
wiley   +1 more source

Exploring the mechanisms of Gui Zhi Fu Ling Wan on varicocele via network pharmacology and molecular docking

Andrologia, Volume 54, Issue 11, December 2022., 2022
Abstract Varicocele (VC) is a common urogenital disease that leads to a high risk of testicular pain or male infertility. The purpose of this research was to explore the molecular mechanism of the Gui Zhi Fu Ling Wan (GFW) in the treatment of VC. The main active ingredients and targets information of GFW were screened by Traditional Chinese Medicine ...
Ruipeng Wang, Xiaoye Qiao, Xiaobin Wang
wiley   +1 more source

Diagnosis of Mendelian Inherited Disorders in Dogs: Brief Literature Review

Bulletin of University of Agricultural Sciences and Veterinary Medicine Cluj-Napoca: Veterinary Medicine, 2020
Genomic research of hereditary diseases is highly significant in the development of specific diagnostic markers meant to identify dogs carrying gene mutations.
Vlad COCOSTÎRC, Dana Liana PUSTA
doaj   +1 more source

Inferring genotyping error rates from genotyped trios [PDF]

arXiv, 2011
Genotyping errors are known to influence the power of both family-based and case-control studies in the genetics of complex disease. Estimating genotyping error rate in a given dataset can be complex, but when family information is available error rates can be inferred from the patterns of Mendelian inheritance between parents and offspring.
arxiv  

Population genetics: an introduction for physicists [PDF]

SciPost Phys. Lect. Notes 89 (2024)
Population genetics lies at the heart of evolutionary theory. This topic forms part of many biological science curricula but is rarely taught to physics students. Since physicists are becoming increasingly interested in biological evolution, we aim to provide a brief introduction to population genetics, written for physicists.
arxiv   +1 more source

Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease [PDF]

, 2017
Context.-With the decrease in the cost of sequencing, the clinical testing paradigm has shifted from single gene to gene panel and now whole-exome and whole-genome sequencing.
Ferreira-Gonzalez, Andrea, Hegde, Madhuri, Mao, Rong, Santani, Avni, Voelkerding, Karl V., Weck, Karen E.   +5 more
core   +3 more sources