Results 161 to 170 of about 186,243 (242)

Coalescence and translation: A language model for population genetics. [PDF]

Proc Natl Acad Sci U S A
Korfmann K, Pope NS, Meleghy M, Tellier A, Kern AD.   +4 more
europepmc   +1 more source

Livestock Multi‐Omics Integration: A Systematic Framework From Statistical Association to Causal Interpretation

Advanced Science, EarlyView.
A three‐tier livestock multi‐omics framework resolves four typical analytical pitfalls. Moving from statistical association through machine learning preprocessing to triple‐modal causal inference, it converts omics results into genomic selection and gene editing strategies to achieve One Health, underpinned by multi‐omics data, multimodal sequencing ...
Jiying Wen, Zhongyu Wang, Jieping Huang, Fen Li, Ningbo Chen, Yun Ma   +5 more
wiley   +1 more source

Kinetic analysis of strand invasion intermediates during C. elegans meiosis reveals continuous sister- and homolog-directed repair. [PDF]

Genetics
Hamrick A, Cope HD, Forbis D, Rog O.
europepmc   +1 more source

Single‐Cell Profiling Reveals a Protective WNT5A‐ATF3‐FOSB Signaling Axis in Hair Follicle Stem Cells During Androgenetic Alopecia

Advanced Science, EarlyView.
Androgenetic alopecia (AGA) is a common form of hair loss with limited treatment options. Silencing of WNT5A signaling, which is widely known as the trigger of the ncWNT signaling pathway, happens in hair follicle stem cells from balding areas. It leads to downregulation of ATF3 and its target FOSB.
Ruiyu Luo, Ke Fang, Changjiang Zhao, Jiachao Xiong, Yuan Zhu, Mingyang Lu, He Yan, Zihan Li, Baojin Wu, Hua Jiang, Yufei Li   +10 more
wiley   +1 more source

Long-read sequencing of families reveals increased germline and postzygotic mutation rates in repetitive DNA. [PDF]

Nat Commun
Noyes MD, Sui Y, Kwon Y, Koundinya N, Wong I, Munson KM, Hoekzema K, Kordosky J, Garcia GH, Knuth J, Lewis AP, Eichler EE.   +11 more
europepmc   +1 more source

Melatonin Levels in 89 Individuals With Smith Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In patients with Smith–Magenis syndrome (SMS), an inverted circadian rhythm of melatonin (MT) contributes to the sleep disturbance. Standard treatment of sleep disturbance with MT often leads to extremely high daytime MT levels, resulting in even more sleep disorders. We therefore retrospectively evaluated the MT data of 89 SMS patients.
Wiebe Braam, Ann C. M. Smith
wiley   +1 more source

An overview of recent advances on wheat homologous and homoeologous recombination. [PDF]

J Exp Bot
Sourdille P, Higgins JD, Serra H.
europepmc   +1 more source

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Programmed meiotic errors facilitate dichotomous sperm production in the silkworm, <i>Bombyx mori</i>. [PDF]

Proc Natl Acad Sci U S A
Benner L, Richmond M, Xiang Y, Lee L, Hockens CB, Li T, Yu Z, Tsuchiya D, Huang S, Tromer EC, Hawley RS, Rosin LF.   +11 more
europepmc   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source