Results 61 to 70 of about 469 (142)

Multiple Roles of Protamine Kinase SRPK1 and Phosphatase PP1γ in Sperm Development

PROTEOMICS, Volume 26, Issue 7, Page 42-56, July 2026.
ABSTRACT Protein phosphorylation regulates key events of male germ cell differentiation. In the testis, SRPK1 and PP1γ are involved in protamine phosphorylation and dephosphorylation, respectively, and their deregulation is linked to defective chromatin structure and male infertility.
Alberto de la Iglesia, Mélina Blanco, Meritxell Jodar, Olivier Feudjio, Marjorie Leduc, Judit Castillo, Julie Cocquet, Rafael Oliva   +7 more
wiley   +1 more source

From a novel pathogenic SAMD9L variant to cohort‐wide insights: Whole‐genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity

British Journal of Haematology, Volume 209, Issue 1, Page 75-83, July 2026.
Summary Germline gain‐of‐function variants in sterile alpha motif domain–containing 9‐like (SAMD9L), located on chromosome 7q, cause a multisystem disorder characterized by bone marrow failure, immunodeficiency and variable neurological involvement. Disease evolution is frequently shaped by somatic genetic rescue (SGR), most commonly through monosomy 7,
Hadjer Dellal, Roman Klifa, Lise Larcher, Marie Passet, Tristan Celse, Laetitia Gouas, Maud Tusseau, AURAGEN Consortium, Alexis Praga, Virginie Bernard, Mathieu Fusaro   +10 more
wiley   +1 more source

A muscular dystrophy associated with bi‐allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies

Brain Pathology, Volume 36, Issue 4, July 2026.
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Marc Pauper, Heike Kölbel, Iakowos Karakesisoglou, Anne Schänzer, Johann Böhm, Rachel Thompson, Nicolai Kohlschmidt, Bernd Ringel, Gisèle Bonne, Katja Neuhoff, Andrea Gangfuß, Ozge Aksel Kilicarslan, Sergi Beltran Agullo, Andreas Hentschel, Ulrike Schara‐Schmidt, Hanns Lochmüller, Kiran Polavarapu, Andreas Roos   +17 more
wiley   +1 more source

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, Volume 110, Issue 1, Page 29-35, July 2026.
In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith, Victor Faundes, Xiaonan Zhao, Bixia Zheng, Gang Zhang, Xiao Mao, Emily Danko, Jason Laufman, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Brynjar Örn Jensson, Telma S. Sulem, Patrick Sulem, Jill A. Rosenfeld, Daryl A. Scott   +15 more
wiley   +1 more source

Real‐Life Effectiveness After Switching to Avalglucosidase Alfa in Late‐Onset Pompe Disease Patients Worsening on Alglucosidase Alfa Therapy: A French Cohort Study

European Journal of Neurology, Volume 33, Issue 7, July 2026.
Illustrating motor function changes before the switch, during the first year, and during the second year after switching treatment. ABSTRACT Late‐onset Pompe disease (LOPD) is a progressive myopathy. Enzyme replacement therapy is effective, but long‐term outcomes vary.
Céline Tard, Sabrina Sacconi, Nadjib Taouagh, Françoise Bouhour, Maud Michaud, Stephane Beltran, Maxime Fournier, Florence Demurger, Emmeline Lagrange, Sylvain Nollet, Jean‐Baptiste Noury, Armelle Magot, Pascal Cintas, Dimitri Renard, Joëlle Deibener‐Kaminsky, Claire Lefeuvre, Jean‐Baptiste Davion, Emmanuelle Salort‐Campana, Azzeddine Arrassi, Marco Spinazzi, Dalil Hamroun, Diana Chitimus, Pompe Study Group, D. Orlikowski, M. Masingue, T. Stojkovic, A. Béhin, F. Lallement, L. Kouton, A. Verschueren, Al. Kaminsky, G. Sole, F. Duval, F. Bouibede, M. C. Minot, Y. Pereon, B. Acket, A. Nadaj‐Pakleza, R. J. Morales, F. Esselin, R. Jaussaud, K. Ghorab, L. Magy, E. Krim, C. Dahan, F. Taithe, A. L. Bedat‐Millet, S. Toquet, E. Diab, M. Maillet‐Vioud, J. Y. Hogrel, A. Echaniz‐Laguna, R. Thomas, G. Nicolas, Shahram Attarian, Pascal Laforêt   +55 more
wiley   +1 more source

Three closely linked X‐chromosomal genes potentially control sex determination in Cannabis sativa

New Phytologist, Volume 251, Issue 1, Page 505-522, July 2026.
Summary Sex determination mechanisms in dioecious plants remain poorly understood yet offer an excellent model system to study genetic changes underlying morphological evolution. We investigated the genetic basis of sex determination in Cannabis sativa, combining quantitative trait locus mapping in a segregating population, comparative transcriptomics ...
Matteo Toscani, Afsheen Malik, Ainhoa Riera‐Begue, Caroline A. Dowling, Quentin Rougemont, Ricardo C. Rodríguez de la Vega, Tatiana Giraud, Susanne Schilling, Rainer Melzer   +8 more
wiley   +1 more source

MANUSCRITOS TRADUCTORIOS DEL BRASIL IMPERIAL. “LA ARAUCANA” DE DON PEDRO II

Mutatis Mutandis, 2014
Resumen: Don Pedro II, emperador del Brasil entre 1840 y 1889, se dedicó con ahínco y pasión a la tarea traductora de varios idiomas hacia el portugués.
Ana María Barrera Conrad Sackl
doaj  

Análise descritiva da tradução do Hitopadeśa por D. Pedro II e Sebastião Dalgado

Mutatis Mutandis, 2014
Resumo: Este artigo objetiva investigar a atividade tradutória de duas figuras centrais no contexto histórico-literário luso-brasileiro em fins do século XIX a partir da tradução do livro do Hitopadeśa, coletânea indiana de contos e apólogos morais ...
Adriano Mafra
doaj  

Accélérer l’obtention d’un diagnostic génétique chez l’adulte. [PDF]

CMAJ, 2023
Faghfoury H, Guerin A.
europepmc   +1 more source

Imbalanced motivated behaviors according to motor sign asymmetry in drug-naïve Parkinson's disease. [PDF]

Sci Rep, 2023
Béreau M, Castrioto A, Servant M, Lhommée E, Desmarets M, Bichon A, Pélissier P, Schmitt E, Klinger H, Longato N, Phillipps C, Wirth T, Fraix V, Benatru I, Durif F, Azulay JP, Moro E, Broussolle E, Thobois S, Tranchant C, Krack P, Anheim M.   +21 more
europepmc   +1 more source