Results 291 to 300 of about 413,811 (335)

Birth-Death Dynamics of Microsatellites: Mechanistic Insights from Orthologous Loci in Felidae. [PDF]

Genes (Basel)
Zhang W, Zhang M, Liu H.
europepmc   +1 more source

Uncovering the role of genetic polymorphisms in cervical insufficiency

International Journal of Gynecology &Obstetrics, EarlyView.
Pathways and genes implicated in CI pathogenesis. Abstract Cervical insufficiency (CI) is characterized by spontaneous dilation of the cervix in the absence of painful uterine contractions in the mid‐trimester, leading to premature delivery. It is responsible for up to 20% of second trimester pregnancy losses, mostly <24 weeks.
Kallirhoe Kalinderi, Michail Kalinderis, Maria Chatzidimitriou, Liana Fidani   +3 more
wiley   +1 more source

MYC Point Mutations in Cancer: A Reboot and a Sequel. [PDF]

Clin Cancer Res
De Luca D, Munafò C, Lorenzi L, Cucco F.   +3 more
europepmc   +1 more source

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, EarlyView.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source

Comparative chloroplast genomics of Erigeron (Asteroideae, Asteraceae). [PDF]

BMC Plant Biol
Abdullah, Rahmatulla A, Chen C, Yan R, Naz I, Heidari P, Ahmed I, Vallada A, Tian X.   +8 more
europepmc   +1 more source

Invasive Meningococcal Disease in a Patient With Complement 7 Deficiency

Journal of General and Family Medicine, EarlyView.
ABSTRACT Neisseria meningitidis can cause invasive meningococcal disease (IMD). Individuals with primary complement deficiencies are at a higher risk of developing IMD. However, cases of IMD associated with complement deficiency have rarely been reported in Japan.
Hiroaki Nishioka, Kazuki Maegawa, Shigeo Hara   +2 more
wiley   +1 more source

A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance

Movement Disorders, EarlyView.
Abstract Background Progressive myoclonic epilepsy is a heterogeneous neurodegenerative disorder characterized by early‐onset myoclonus, epilepsy, generalized tonic–clonic seizures, and progressive neurological deterioration. Recently, a CGG repeat expansion and increased CSNK1E DNA methylation have been shown to be associated with developmental and ...
Fulya Akçimen, Pilar Alvarez Jerez, Ulviyya Guliyeva, Jasmine Lee, Laksh Malik, Breeana Baker, Kamran Salayev, Sughra Guliyeva, Kimberley J. Billingsley, Henry Houlden, Andrew B. Singleton, Cornelis Blauwendraat, Sara Bandres‐Ciga, Rauan Kaiyrzhanov   +13 more
wiley   +1 more source

Compound Heterozygous Structural Variants in Cases with Unsolved PRKN‐Associated Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Biallelic mutations in the PRKN gene are a common cause of early‐onset Parkinson's disease (EOPD). In addition to single nucleotide variants, structural variants contribute substantially to the mutational profile of PRKN. A significant portion of patients with EOPD remains genetically unsolved.
Agata Fant, Sara Trova, Edoardo Monfrini, Gaia Treves, Francesco Musacchia, Fabio Landuzzi, Paola Mandich, Antonio Amoroso, Remo Sanges, Luca Pandolfini, Francesco Cavallieri, Franco Valzania, Valentina Fioravanti, Giulia Di Rauso, Gloria Brescia, Enza Maria Valente, Valeria Tiranti, Luigi Michele Romito, Chiara Reale, Barbara Garavaglia, Antonio Emanuele Elia, Andrea Cavalli, Alessio Di Fonzo, Manuela Vecchi, Stefano Gustincich   +24 more
wiley   +1 more source

Determination of trunk neural crest cell fate and susceptibility to splicing perturbation by the DLC1-SF3B1-PHF5A splicing complex. [PDF]

Nat Commun
Zheng Z, Guo S, Tam HY, Wang J, Rao Y, Hui MN, Cheung MPL, Leung AWL, Wong KKW, Sharma R, Liu JA, Cheung M.   +11 more
europepmc   +1 more source

Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

Movement Disorders, EarlyView.
Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Ugo Sorrentino, Martin Pavlov, Nazanin Mirza‐Schreiber, Melanie Brugger, Theresa Brunet, Eugenia Tsoma, Alice Saparov, Ivana Dzinovic, Philip Harrer, Antonia M. Stehr, Matias Wagner, Erik Tilch, Barbara Wallacher, Shiraz Alhasan, Anne Koy, Alessio Di Fonzo, Miriam Kolnikova, Katarina Kusikova, Petra Havrankova, Raushana Tautanova, Sandy Lösecke, Sebastian Eck, Sylvia Boesch, Jan Necpal, Matej Skorvanek, Robert Jech, Holger Prokisch, Juliane Winkelmann, Konrad Oexle, Elisabeth Graf, Michael Zech   +30 more
wiley   +1 more source