Results 41 to 50 of about 6,812 (254)

MIS12 Is Required for Kinetochore‐Microtubule Attachment in Oocyte Meiosis

open access: yesAdvanced Science, EarlyView.
A model depicting the role of MIS12 in K‐MT attachment during oocyte meiosis. The presence of MIS12 stabilizes bipolar K‐MT attachments by maintaining the function of NDC80 and its interaction with TUBB. This, in turn, promotes KNL1 assembly and subsequent SAC protein recruitment to kinetochores.
Jian Li   +9 more
wiley   +1 more source

Beyond Potency: Emerging Determinants and Optimization Strategies Enhancing Therapeutic Efficacy of Adult Stem Cells

open access: yesAdvanced Science, EarlyView.
Adult stem cell therapy requires more than high in vitro potency. This review proposes a systems framework in which cell‐intrinsic programs, instructive microenvironmental cues, and pre‐/post‐delivery engineering are co‐designed under standardized translational rules.
Soo‐Rim Kim   +2 more
wiley   +1 more source

Better 10‐Year Cerebrovascular Outcome After Transplant Than on Standard‐Care in Sickle Cell Anemia: DREPAGREFFE Trial

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Management of cerebral vasculopathy in sickle cell anemia (SCA) includes standard‐care, that is, chronic transfusion (CT) or hydroxyurea, and hematopoietic cell transplantation (HCT). DREPAGREFFE‐1 (December 2010/June 2013), a French multicenter trial, was the first prospective trial comparing standard‐care to match sibling donor (MSD)‐HCT in ...
Francoise Bernaudin   +40 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 more
wiley   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland   +4 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen   +13 more
wiley   +1 more source

Whistler-mode chorus waves at Mars

open access: yesNature Communications, 2023
Chorus waves are naturally occurring electromagnetic emissions in space and are known to produce highly energetic electrons in the hazardous radiation belt.
Shangchun Teng   +6 more
doaj   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

open access: yesAnimal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang   +14 more
wiley   +1 more source

Follicle Stimulating Hormone in Cattle Breeding: Fundamentals, Innovations, and Scope

open access: yesAnimal Research and One Health, EarlyView.
FSH is crucial in cattle reproduction, with exogenous administration enhancing breeding and embryo production. Recombinant FSH offers advantages over pituitary‐extracted variants, including fewer injections, reduced stress, and safer production. These innovations improve breeding efficiency, optimize reproductive outcomes, and contribute to sustainable
Muhammad Shahzad   +7 more
wiley   +1 more source

ARCHITECTONICAL PECULIARITIES OF THE CANTATA OUR DAWN BY S. LOBEL [PDF]

open access: yesStudiul Artelor şi Culturologie: Istorie, Teorie, Practică, 2017
The author analyses the musical architectonics of the cantata Our Dawns by S. Lobel (1954), starting from the poetic form of E. Bukov’s poems, which are the basis of the work.
KUZNEŢOVA NADEJDA
doaj  

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