Results 241 to 250 of about 144,700 (293)

GAA‐FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult‐Onset Ataxia

Clinical Genetics, EarlyView.
GAA‐FGF14 ataxia is a frequent cause of both familial and sporadic cerebellar ataxia. If symptoms are consistent, targeted testing of the FGF14 locus should be considered as a first‐line approach, as the diagnostic yield is up to 50%. ABSTRACT GAA‐FGF14 ataxia (spinocerebellar ataxia 27B, SCA27B), identified in 2023, is a major cause of adult‐onset ...
Eva‐Maria Kraus, Johannes Lenz, Pauline Ploettner, Patricia Duffek, Jost‐Julian Rumpf, Rami Abou Jamra, John Wiedenhoeft, Denny Popp   +7 more
wiley   +1 more source

Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population‐Specific Variants and Clinical Correlations

Clinical Genetics, EarlyView.
The Burden: Hearing loss (HL) is the most prevalent sensory disorder globally, affecting 1.5 million individuals in Brazil. The Gap: While > 150 genes are linked to HL, the genetic architecture in underrepresented populations like Brazil is poorly defined. The Problem: This lack of data limits diagnostic yield and the application of precision medicine.
Stella Diogo‐Cavassana, Danillo Alencar‐Coutinho, Rafaella Abreu‐Oberhuber, Maria Eduarda Paramo‐Neto, Jeanne Oiticica, Ricardo Ferreira Bento, Ana Carla Batissoco, Karina Lezirovitz   +7 more
wiley   +1 more source

First Report on Presence of Mitochondrial Introns in Freshwater Sponges, and Pseudogenic Evidence of Their Loss. [PDF]

J Mol Evol
Zhao Z, Ma J, Yang Q, Wörheide G, Erpenbeck D.   +4 more
europepmc   +1 more source

TANC1::HTRA1 fusion in schwannomas

Brain Pathology, EarlyView.
Ilay Caliskan, Kanish Mirchia, Walter Patrick Devine, Melike Pekmezci   +3 more
wiley   +1 more source

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients

Clinical Genetics, EarlyView.
Novel variants in PUS7 associated with intellectual disability and growth retardation: expanding the clinical spectrum in 13 patients. ABSTRACT Pseudouridylation is a frequent post‐transcriptional modification resulting in uridine isomerization in 5‐ribosyluracil, also called pseudouridine. This mechanism leads to RNA stability with an increase in base‐
Camille Bergès, Clément Sauvestre, Sophie Naudion, Catherine Vincent Delorme, Thomas Smol, Mélanie Rama, Stephanie Moortgat, Isabelle Maystadt, Rogier Kersseboom, Martina Wilke, Stefan Barakat, Yoann Vial, Laurence Perrin, Sandrine Passemard, Farooq Ahmad, Muhammad Umair, Tobias Haack, Mona Grimmel, Alma Kuechler, Anne Slavotinek, Patrick Devine, Ugur Hodoglugil, Faisal Zafar, Erum Afzal, Tracy Dudding‐Byth, Guillaume Jouret, Lucas Herissant, Stephanie Efthymiou, Henry Houlden, Marine Legendre, Vincent Michaud   +30 more
wiley   +1 more source

Zeb2 Controls Retinal Physiological and Pathological Angiogenesis by Regulating Astrocyte Proliferation and Differentiation

Cell Proliferation, EarlyView.
During development, the oxygen‐sensitive transcription factor Zeb2 restrains astrocyte proliferation and maturation to ensure balanced retinal angiogenesis. In disease, it promotes the neurotoxic A1 astrocyte phenotype and inflammation, thereby promoting reparative revascularization over pathological neovascularization.
Jing Liu, Yanan Guo, Kangjian Xiang, Shuyi Wang, Dongchang Xiao, Mengqing Xiang   +5 more
wiley   +1 more source

Plastid genome variation in the green algal genus <i>Coelastrum</i> (Scenedesmaceae). [PDF]

Front Plant Sci
Lee C, Jansen RK, Theriot EC.
europepmc   +1 more source

Intron [PDF]

, 2018
openaire   +1 more source

Splice site diversity and abundance of noncanonical introns in diplonemids (Diplonemea, Euglenozoa). [PDF]

RNA
Thakur PK, Butenko A, Karásek F, Svobodová M, Faktorová D, Pavlisková H, Varga V, Horák A, Lukeš J, Staněk D.   +9 more
europepmc   +1 more source

Widespread and intron-rich mirusviruses are predicted to reproduce in nuclei of unicellular eukaryotes. [PDF]

Nat Microbiol
Medvedeva S, Guyet U, Pelletier E, Ruscheweyh HJ, Sunagawa S, Ogata H, Aylward FO, Gaïa M, Yutin N, Koonin EV, Krupovic M, Delmont TO.   +11 more
europepmc   +1 more source