Results 201 to 210 of about 176,215 (308)

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  

High incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy

Epilepsia, EarlyView.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini, Till Hartlieb, Ahmed Gaballa, Katja Kobow, Mitali Katoch, Paraskevi Chasani, Georgia Vasileiou, Wiebke Hofer, Lea M. Reisch, Manfred Kudernatsch, Christian G. Bien, Roland Coras, Ingmar Blümcke, Lucas Hoffmann   +13 more
wiley   +1 more source

A missense mutation in the bovine <i>NPBWR2</i> gene introgressed from <i>Bos javanicus</i> into Chinese indicine cattle. [PDF]

Anim Biotechnol
Tian Y, Zhang Z, Hanif Q, Li F, Zhang J, Arslan AM, Lei C, Huang B, Chen N.   +8 more
europepmc   +1 more source

Insights into ANKRD11‐related epilepsy from 163 people

Epilepsia, EarlyView.
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su, Jian Ma, Qi Zhang, Wandong Hu, Ying Ren, Wenchao Zhang, Hongwei Zhang   +6 more
wiley   +1 more source

CARE-compliant case report: Nemaline myopathy caused by the ACTA1 p.Q139H missense mutation. [PDF]

Medicine (Baltimore)
Pei X, Zhai Y, Yang F, Lu W.
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Phenotypic impact on coat color and uterine development in mice carrying a missense mutation associated with bovine White Heifer Disease. [PDF]

J Vet Med Sci
Wu Y, Sekiguchi M, Nakadaira Y, Ishiyama D, Magata F, Fujii W, Kyuwa S, Matsuda F, Kakuta S.   +8 more
europepmc   +1 more source

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

Long QT interval syndrome type 2 caused by a new missense mutation of KCNH2 gene: A case report. [PDF]

Medicine (Baltimore)
Ma Y, Wang L, Wu S, Peng C.
europepmc   +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