Results 221 to 230 of about 319,715 (326)

Beyond the simplicity of Mendelian inheritance.

Comptes rendus. Biologies, 2016
J. Schacherer
semanticscholar   +1 more source

CRISPR‐Cas9‐Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel–Gruber Syndrome Phenotype

genesis, Volume 64, Issue 1, February 2026.
ABSTRACT To determine whether TXNDC15 variation causes Meckel–Gruber syndrome (MKS), we assessed the pathogenicity of the frameshift variant c.560delA. A CRISPR–Cas9 generated mouse model carrying the equivalent Txndc15 c.512delA mutation was analyzed at embryonic day 15.5.
Yang Liu, Hui Wang, Liyuan Chen, Xiaoxia Wu, Zhiyong Xu, Qingfa Huang, Hu Zhang, Xiushu Cao, Xinyuan Liang, Xingjian Zhong, Caiqun Luo   +10 more
wiley   +1 more source

Evaluation of Transgenerational Gene Editing Efficiency and Inheritance of Edits Using a Split Cas9/gRNA Crossing System in Zea mays

Plant Biotechnology Journal, EarlyView.
Christian Damian Lorenzo, Lennert Impens, Matilde Sanches, Wout Vandeputte, Pieter Wytynck, Stijn Aesaert, Griet Coussens, Dirk Inzé, Hilde Nelissen, Laurens Pauwels   +9 more
wiley   +1 more source

The parabss1 Drosophila melanogaster as Model for Chronic Nociception: Insights Into Cannabidiol Analgesic Effects

European Journal of Pain, Volume 30, Issue 2, February 2026.
ABSTRACT Background Chronic pain, which is often unrelated to ongoing injury, is poorly understood and difficult to treat. Genetic studies have identified voltage‐gated sodium (Nav) channels, particularly gain‐of‐function mutations such as L858F and R1150W in human NaV1.7, as involved in the development of chronic pain. Methods A chronic pain model was
Serena Mares Malta, Lucas Ian Veloso Correia, Alexandre Souza Marquez, Lucas Matos Martins Bernardes, John George Howland, Ana Paula Mendes‐Silva, Foued Salmen Espíndola, Carlos Ueira‐Vieira   +7 more
wiley   +1 more source

The impact of known breast cancer polygenes on critical illness insurance [PDF]

, 2015
Adams, Craig, Donnelly, Catherine, Macdonald, Angus Smith   +2 more
core   +1 more source

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy [PDF]

, 2018
Konstantinos Nikopoulos, Katarina Cisarova, Mathieu Quinodoz, Hanna Koskiniemi-Kuending, Noriko Miyake, Pietro Farinelli, Atta Ur Rehman, Muhammad Imran Khan, Andrea Prunotto, Masato Akiyama, Yoichiro Kamatani, Chikashi Terao, Fuyuki Miya, Yasuhiro Ikeda, Shinji Ueno, Nobuo Fuse, Akira Murakami, Yuko Wada, Hiroko Terasaki, Koh‐Hei Sonoda, Tatsuro Ishibashi, Michiaki Kubo, Frans P.M. Cremers, Zoltán Kutalik, Naomichi Matsumoto, Koji M. Nishiguchi, Toru Nakazawa, Carlo Rivolta   +27 more
openalex   +1 more source

Identifying Causal Genotype–Phenotype Relationships for Population‐Sampled Parent–Child Trios

Genetic Epidemiology, Volume 50, Issue 1, February 2026.
ABSTRACT The process by which genes are transmitted from parent to child provides a source of randomization preceding all other factors that may causally influence any particular child phenotype. Because of this, it is natural to consider genetic transmission as a source of experimental randomization.
Yushi Tang, Irineo Cabreros, John D. Storey   +2 more
wiley   +1 more source

Extending the Use of Mendelian Randomisation With Non‐Inherited Variants to Assess Socially Transmitted Parental Exposures Under Assortative Mating

Genetic Epidemiology, Volume 50, Issue 1, February 2026.
ABSTRACT A longstanding aim of developmental psychology and epidemiology is to understand the causal effects of parental phenotypes on offspring outcomes. Traditional approaches often fail to account for confounding and reverse causation. We evaluate the use of Mendelian randomisation with non‐inherited variants (MR‐NIV) to address these limitations ...
Benjamin Woolf, Amy Mason, Chin Yang Shapland, Hyunseung Kang, Hannah M. Sallis, Stephen Burgess, Marcus R. Munafò   +6 more
wiley   +1 more source

Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health

Clinical Genetics, Volume 109, Issue 2, Page 266-276, February 2026.
In 325 exomes of South Brazilian Mennonites, we identified 23 pathogenic variants (P) and 27 likely P, with founder effects identified for 96% of P, whose frequencies differed from non‐Finnish Europeans, Amish, and Brazilian populations. ABSTRACT The Mennonite population has a unique history of 500 years of genetic isolation shaped by at least three ...
Luiza Beatriz Mayer de Lima, Eduardo Delabio Auer, Isabela Dall’Oglio Bucco, Valéria Bumiller‐Bini Hoch, Priscila Ianzen dos Santos, Fabiana L. Lopes, Alan Shuldiner, Emilton Lima Júnior, Angelica Beate Winter Boldt   +8 more
wiley   +1 more source

Blurring the Lines: Co‐Occurrence of MSH6 Variant and MLH1 Constitutional Epimutation in a Young Colorectal Cancer Patient

Clinical Genetics, Volume 109, Issue 2, Page 363-367, February 2026.
We report a unique case of early‐onset colorectal cancer with both a germline MSH6 variant and constitutional mosaic MLH1 epimutation, revealing a possible digenic mechanism underlying Lynch syndrome. This case highlights the diagnostic complexity of mismatch repair deficiency and the value of integrative tumor–germline molecular profiling.
Aasem Abu Shtaya, Yarin Hadid, Ahmad Mahamid, Debora Kidron, Naama Halpern, Adel Shalata, Zohar Levi, Yael Goldberg   +7 more
wiley   +1 more source