Results 201 to 210 of about 269,710 (304)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Efficient Single Nucleotide Polymorphism Marker-Assisted Selection to Fusarium Wilt in Chickpea. [PDF]

Plants (Basel)
Castro P, Caballo C, Carmona A, Millan T, Gil J, Die JV, Izquierdo I, Rubio J.   +7 more
europepmc   +1 more source

Submergence Gene Sub1A Transfer into Drought-Tolerant japonica Rice DT3 Using Marker-Assisted Selection. [PDF]

Int J Mol Sci, 2021
Wu YP, Wang SM, Chang YC, Ho C, Hsu YC.
europepmc   +1 more source

Marker-assisted selection and introgression

, 2000
La sélection et, plus généralement, l’amélioration génétique assistée par marqueurs est une des perspectives très importantes d’application de la génétique moléculaire. Les principes de base en sont rappelés et les modalités de mise en oeuvre rapidement décrites. L’efficacité de ces méthodes d’amélioration nouvelles est estimée relativement à celle des
openaire   +1 more source

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

Rapid breeding of an early maturing, high-quality, and high-y.ielding rice cultivar using marker‑assisted selection coupled with optimized anther culture. [PDF]

Mol Breed
Chen J, Li S, Zhou L, Zha W, Xu H, Liu K.   +5 more
europepmc   +1 more source

Identification of the Powdery Mildew Resistance in Chinese Wheat Cultivar Heng 4568 and its Evaluation in Marker-Assisted Selection. [PDF]

Front Genet, 2022
Gao H, Xu X, Ai P, Luo F, Guo P, Ma P.
europepmc   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Accelerating haploid induction rate and haploid validation through marker-assisted selection for qhir1 and qhir8 in maize. [PDF]

Front Plant Sci
Khammona K, Dermail A, Suriharn K, Lübberstedt T, Wanchana S, Thunnom B, Poncheewin W, Toojinda T, Ruanjaichon V, Arikit S.   +9 more
europepmc   +1 more source

IV Thrombolysis Facilitates Interventional Reperfusion in Non‐Cardioembolic but Not Cardioembolic Stroke

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Intravenous thrombolysis (IVT) before thrombectomy for ischemic stroke may alter clot structure and procedural performance. We investigated how IVT relates to thrombectomy metrics across stroke etiologies. Methods We performed a time‐to‐event analysis of consecutive patients with anterior circulation large vessel occlusion (acLVO ...
Annahita Sedghi, Daniel P. O. Kaiser, Martin Arndt, Norma J. Diel, Erik Simon, Witold H. Polanski, Volker Puetz, Hagen B. Huttner, Timo Siepmann   +8 more
wiley   +1 more source