Results 171 to 180 of about 133,000 (265)

Targeted Knockout of CYP79A1 Reduces Cyanogenic Potential in Grain Sorghum

Plant Biotechnology Journal, EarlyView.
Evan D. Groover, Jianqiang Shen, Kiflom Aregawi, Sophie Li, Shahar Schwartz, Brian J. Staskawicz, Peggy G. Lemaux, David F. Savage   +7 more
wiley   +1 more source

Mapping Mutations and Signaling Network Interactions to Guide Precision Therapy in Gallbladder Cancer

Cancer Reports, Volume 9, Issue 10, October 2026.
ABSTRACT Background Gallbladder cancer (GBC) is a biologically complex malignancy arising from the epithelial lining of the gallbladder, with adenocarcinoma constituting the major histological subtype. Early detection is challenging because of vague clinical manifestations and the organ's deep‐seated anatomical location, resulting in diagnosis at ...
Nisha Manav, Akanksha Kashyap, Lakshay Malhotra, Chethan Rajegowda, Chandra Prakash Prasad   +4 more
wiley   +1 more source

Prenatal diagnosis of glucose-6-phosphatase catalytic subunit 3 deficiency (Dursun syndrome) using whole-exome sequencing: A case report of severe fetal cardiomyopathy in a consanguineous family. [PDF]

J Int Med Res
Ghazali SM, Bader RS.
europepmc   +1 more source

Impaired Motor Function in a Zebrafish Stathmin‐2 Knockout Model

Developmental Neurobiology, Volume 86, Issue 4, October 2026.
ABSTRACT Stathmin‐2 (STMN2) is a microtubule‐associated protein that plays a role in the stability of microtubules in axons of the nervous system of animals. In this study, we generated a novel zebrafish STMN2 knockout (KO) model. STMN2 is represented by two genes in the zebrafish genome: stmn2a and stmn2b.
Tyler J. N. Gurberg, Ziyaan A. Harji, Christian J. Rampal, Joséphine Sacy‐Richer, Amy Wang, Esteban C. Rodríguez, Gary A. B. Armstrong   +6 more
wiley   +1 more source

Engineered tRNA reduces vision loss in a mouse model of Leber congenital amaurosis. [PDF]

Signal Transduct Target Ther
Shahi PK, Akyuz E, Gissot L, Al Saneh A, Pillala SK, Sinha D, Hanstad GM, Kabra M, Fernandez Zepeda MA, Gamm DM, Young SM, Ahern CA, Pattnaik BR.   +12 more
europepmc   +1 more source

Clinical and Molecular Features of BAP1‐Mutated Meningiomas: Case Series

Molecular Carcinogenesis, Volume 65, Issue 10, Page 1343-1350, October 2026.
ABSTRACT BRCA1‐associated protein 1 (BAP1)‐deficient meningiomas represent a clinically and molecularly distinct subgroup with variable histology and aggressive behavior that may not be fully captured by current grading criteria. The clinical spectrum of BAP1 alterations in meningiomas, including both somatic and germline contexts, remains incompletely
Ivan Pradilla, Rasha Alfattal, Susan L. McGovern, Shaan M. Raza, Franco DeMonte, Leomar Y. Ballester, Chirag B. Patel, Carlos Kamiya‐Matsuoka   +7 more
wiley   +1 more source

Exonisation of an Alu element in the 3'-UTR contributes to SRD5A2 deficiency. [PDF]

Sci Rep
Werner R, Basina A, Künstner A, Prakash SAC, Kösem K, Kulle A, Hornig NC, Wudy SA, Hartmann MF, Holterhus PM, Busch H, Hiort O.   +11 more
europepmc   +1 more source

Functional characterization of 42 CK2α de novo variants associated with Okur‐Chung neurodevelopmental syndrome

The FEBS Journal, Volume 293, Issue 19, Page 5759-5779, October 2026.
Okur‐Chung neurodevelopmental syndrome (OCNDS) is a neurodevelopmental disorder associated with mutations in the gene coding for Protein kinase CK2α. In this work, 42 variants of CK2α associated with OCNDS were characterized in vitro. This included determination of catalytic activity and CK2α/CK2β‐interaction as well as an assessment of evolutionary ...
Alexander Gast, Christian Werner, Karsten Niefind, Joachim Jose   +3 more
wiley   +1 more source

Homozygous Nonsense <i>DSP</i> Variants Selectively Affecting Desmoplakin I Cause Carvajal Syndrome in a Consanguineous Arabian Family with Four Affected Female Siblings. [PDF]

J Clin Med
Al-Mutairi DA, Al-Qbandi MA, AlTurki A, Naief AA, Helms AS.   +4 more
europepmc   +1 more source

Genetic landscape of a neonatal hypogonadotropic hypogonadism series: Novel variants and phenotypic spectrum

Journal of Neuroendocrinology, Volume 38, Issue 10, October 2026.
Abstract To describe clinical presentation and genetic findings in a cohort of infants with congenital hypogonadotropic hypogonadism (CHH) diagnosed before 2 years of age. From a large cohort of patients who underwent next‐generation sequencing (NGS) for CHH between 2019 and 2025, we identified all patients tested at ≤2 years of age.
Karine Aouchiche, Laure Van Wormhoudt, Kevin Perge, Joanne Dornberger, Cindy Colson, Marine Delagrange, Clara Leroy, Jennifer Ledmazel, Vanessa Menut, Jessica Benarrous Jaillet, Djamel Bendifallah, Mohamad Hage Chehade, Christelle Dib, Anne Barlier, Thierry Brue, Rachel Reynaud, Alexandru Saveanu   +16 more
wiley   +1 more source