Results 71 to 80 of about 2,694,828 (149)

Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India

Epilepsia Open, 2023
Objective Literature on the genotypic spectrum of Infantile Epileptic Spasms Syndrome (IESS) in children is scarce in developing countries. This multicentre collaboration evaluated the genotypic and phenotypic landscape of genetic IESS in Indian children.
Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan, Indar Kumar Sharawat, Kavita Srivastava, Nitish Vora, Rahul Badheka, Sumita Danda, Umesh Kalane, Anupriya Kaur, Priyanka Madaan, Sanjiv Mehta, Sandeep Negi, Prateek Kumar Panda, Surekha Rajadhyaksha, Arushi Gahlot Saini, Lokesh Saini, Siddharth Shah, Varunvenkat M. Srinivasan, Renu Suthar, Maya Thomas, Sameer Vyas, Naveen Sankhyan, Jitendra Kumar Sahu   +23 more
doaj   +1 more source

Analysis of Time-Series Gene Expression Data to Explore Mechanisms of Chemical-Induced Hepatic Steatosis Toxicity

Frontiers in Genetics, 2018
Non-alcoholic fatty liver disease (NAFLD) represents a wide spectrum of disease, ranging from simple fatty liver through steatosis with inflammation and necrosis to cirrhosis.
Alejandro Aguayo-Orozco, Frederic Yves Bois, Søren Brunak, Olivier Taboureau, Olivier Taboureau   +4 more
doaj   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Generation of an induced pluripotent stem cell line carrying biallelic deletions (SCTCi019-B) in ALDH7A1 using CRISPR/Cas9

, 2023
Biallelic pathogenic variants in ALDH7A1 are associated with pyridoxine-dependent epilepsy (PDE). ALDH7A1 encodes for the third enzyme of the lysine catabolism pathway.
Ka M. Wu, Nael Nadif Kasri, Clara D.M. van Karnebeek, Imke M.E. Schuurmans, Alejandro Garanto, Karnebeek, C.D.M. van, Nadif Kasri, N., Schuurmans, I.M.E., Wu, K.M., Garanto, A.   +9 more
core   +1 more source

Transcriptomic Profiling of Diabetic Porcine Wound Healing Model Identifies Key Metabolic, Inflammatory, and Oxidative Stress Pathways

Wound Repair and Regeneration, Volume 34, Issue 4, July/August 2026.
ABSTRACT Diabetic foot ulcers remain a major clinical challenge as diabetes prevalence rises, emphasising the need for improved therapeutics and relevant preclinical models. Common rodent wound‐healing models poorly recapitulate human skin anatomy and repair.
Joshua T. McCune, Mariah G. Bezold, Jeffrey M. Davidson, C. Henrique Serezani, Rebecca S. Cook, Craig L. Duvall   +5 more
wiley   +1 more source

Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow. [PDF]

Int J Neonatal Screen
Pyridoxine-dependent epilepsy (PDE) represents a group of rare developmental and epileptic encephalopathies. The most common PDE is caused by biallelic pathogenic variants in ALDH7A1 (PDE-ALDH7A1; OMIM #266100), which encodes α-aminoadipate semialdehyde (
Donge M, Marie S, Pochet A, Marcelis L, Luis G, Boemer F, Prouteau C, Mesli S, Cuykx M, Nguyen-Khoa T, Guénet D, Empain A, Barth M, Dauriat B, Laroche-Raynaud C, De Laet C, Verloo P, Jonckheere AI, Schiff M, Nassogne MC, Dewulf JP.   +20 more
europepmc   +2 more sources

Dynamics of the Mammalian Placental Metabolome in Placentogenesis and Embryonic Development

Advanced Science, Volume 13, Issue 19, 2 April 2026.
This study identifies three metabolic stages (E8.5, E9.5–10.5, E11.5–14.5) and two transition periods (E8.5–9.5, E10.5–11.5) in mouse placental development. NAD(H) emerges as a key dynamic metabolite that enhances embryonic growth through accelerated segmentation and increased proliferation of mouse embryonic stem cell (mESC)‐induced presomitic ...
Gang Chen, Zichen Liu, Mengyi Wei, Qian Li, Liang Wu, Kunyuan Yu, Yanhong Xu, Dainan Yu, Wenwu Ma, Hongmei Wang, Ng Shyh‐Chang, Jinglei Zhai   +11 more
wiley   +1 more source

Expression pattern of aldh7a1 in zebrafish.

, 2014
Whole-mount in situ hybridization of aldh7a1 at (A) 24 hpf and (B) 48 hpf. L, lens; OF, optic fissure; PF, pectoral fin. Scale bar: 65 µm in A; 60 µm in B.
Chad Brocker (184166), Brian P. Brooks (366590), Ramakrishna P. Alur (366582), Susan Vitale (594543), Mones Abu-Asab (80768), Holly E. Babcock (594541), Vasilis Vasiliou (184172), Sunit Dutta (594542)   +7 more
core   +1 more source

Blood DNA methylation signature of cognitive reserve moderates the association between CSF tau pathology and memory in prodromal Alzheimer's disease

Alzheimer's &Dementia: Translational Research &Clinical Interventions, Volume 12, Issue 2, April/June 2026.
Abstract INTRODUCTION Cognitive reserve (CR) reflects variability in cognitive adaptability that modifies the impact of Alzheimer's disease (AD) pathology on cognition. However, blood‐based biomarkers of CR have not been established in prodromal AD.
David Lukacsovich, Juan I. Young, Lissette Gomez, Brian W. Kunkle, Zhixin Mao, Wei Zhang, X. Steven Chen, Deirdre M. O'Shea, Tatjana Rundek, Eden R. Martin, Lily Wang, for the Alzheimer's Disease Neuroimaging Initiative   +11 more
wiley   +1 more source

Evolutionary conservation of four novel ALDH7A1 missense mutations identified in Chinese PDE patients.

, 2014
Evolutionary conservation of four novel ALDH7A1 missense mutations identified in Chinese PDE patients.
Xiaoling Yang (27940), Yuwu Jiang (330637), Zhixian Yang (541835), Yuehua Zhang (541836), Hui Xiong (541837), Ye Wu (171928), Jiong Qin (541838), Jingmin Wang (171933)   +7 more
core   +1 more source