Results 211 to 220 of about 176,674 (312)

Case Report: DGAT1 deficiency in three infants including a novel missense variant: structural insights and comparison with reported cases. [PDF]

Front Pediatr
Malki EG, Adawi A, Idkedek M, Ashhab Y, Damseh N, Sultan M.   +5 more
europepmc   +1 more source

Jagged-1 mutation analysis in Italian Alagille syndrome patients.

, 1999
Alagille syndrome (AGS) is an autosomal dominant disorder with developmental abnormalities affecting the liver, heart, eyes, vertebrae, and craniofacial region. The Jagged-1 (JAG1) gene, which encodes a ligand of Notch, has recently been found mutated in
VAJRO, Pietro, Frau F, Uda M, DeVirgilis S., Musumeci S, Zancan L, Colombo C, Marazzi MG, Raffaele Iorio, Cao A, Pilia G, Marcellini M, Barbera C, Nebbia G, Balli F, Ruffa G, Macis D, Crisponi L, Gatti R, Frediani T   +19 more
core  

Cannabidiol reduces atypical absence seizures and epileptic spasms in a Gabrb3+/D120N mouse model of Lennox–Gastaut syndrome

Epilepsia Open, EarlyView.
Abstract Objective Lennox–Gastaut syndrome (LGS) is a drug‐resistant developmental and epileptic encephalopathy (DEE). Preclinical drug development for LGS is constrained by a lack of syndrome‐relevant animal models. We aimed to evaluate a Gabrb3+/D120N knock‐in (KI) mouse model of LGS by quantifying atypical absence seizures and epileptic spasms and ...
Thomas Harman, Laura A. Sharman, Ka Lai Yip, Miguel Bedoya‐Pérez, Vaishali Janve, Jonathon C. Arnold   +5 more
wiley   +1 more source

Neurolathyrism in Sub‐Saharan Africa—Assessing the Neurotoxic Risks of Lathyrus sativus Amid Drought and Food Security Challenges

Food Safety and Health, EarlyView.
Representation of grass pea consumption in drought‐stricken sub‐Saharan Africa sustains nutrition, but excess β‐ODAP exposure due to multiple reasons triggers neurolathyrism, a progressive neurotoxic disorder. ABSTRACT Neurolathyrism is a progressive motor neuron disease due to the consumption of Lathyrus sativus (grass pea) over long periods.
Biruk Demisse Ayalew, Muhammad Umar, Pakeezah Tabasum, Maria Qadri, Talha Farooq, Eskeatnaf Yosef Getachew, Zemichael Getu Alemayehu, Eden Haile Hagos, Hailemariam Shimelis Gebeyehu, Hanna Tsehay Abebe, Nuradin Abdi Ali, David Chinaecherem Innocent, Temesgen Mamo Sharew   +12 more
wiley   +1 more source

AKT, ATR, and Notch Inhibitors Radiosensitize a Preclinical Model of Adenoid Cystic Carcinoma

Head &Neck, EarlyView.
ABSTRACT Background Adenoid Cystic Carcinoma (ACC) is a rare and lethal type of head and neck cancer. Standard therapy involves surgery followed by radiation therapy. The majority of ACC has MYB overexpression and MYB‐NFIB gene fusions, while Notch mutations are associated with aggressive behavior.
Shivani Thoidingjam, Sushmitha Sriramulu, Asya Haider Muratoglu, Stephen Brown, Oudai Hassan, Benjamin Movsas, Haythem Ali, Steven Chang, Patrick Ha, Farzan Siddiqui, Shyam Nyati   +10 more
wiley   +1 more source

Infantile dilated cardiomyopathy caused by RPL3L gene mutation: A case report. [PDF]

J Int Med Res
Mai B, Lei Z, Qin S, Yang G, Zhu N, Lin W.   +5 more
europepmc   +1 more source

Novel <i>ITGB6</i> Mutations Causing Amelogenesis Imperfecta. [PDF]

Genes (Basel)
Yin H, Jang S, Kim H, Simmer JP, Hu JC, Kim JW.   +5 more
europepmc   +1 more source

Gene signatures characterizing driver mutations in lung squamous carcinoma are predictive of the progression of pre‐cancer lesions

International Journal of Cancer, EarlyView.
What's New? Lung squamous cell carcinoma (LUSC) is more aggressive than lung adenocarcinoma, and is most often diagnosed at an advanced stage. Here, the authors evaluated gene expression data from LUSC tumors and came up with gene signatures for 34 genetic abnormalities whose expression changes throughout different precancerous stages. Several of these
Yupei Lin, Venugopalareddy Mekala, Jianrong Li, Xiang Wang, Muhammad Aminu, Jia Wu, Jianjun Zhang, Robert Taylor Ripley, Christopher I. Amos, Chao Cheng   +9 more
wiley   +1 more source

Comprehensive <i>BRCA1/2</i> mutation landscape in prostate cancer in the UAE and Arab population. [PDF]

Front Cell Dev Biol
Al Shareef ZM, Al-Shahrabi RM, Bhamidimarri PM, Yener B, Bouzid A, Hamad AM, Murad S, Elbarkouky A, Saheb Sharif-Askari F, Bendardaf R, Hamoudi RA, Hachim MY.   +11 more
europepmc   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source