Results 71 to 80 of about 2,524,227 (174)

Understanding the Epigenetic Landscape of Barrett's Esophagus and Esophageal Cancer: A Review of Current Findings, Caveats and Future Directions

Genes, Chromosomes and Cancer, Volume 65, Issue 9, September 2026.
ABSTRACT Esophageal cancer (OC) is currently the eighth most common form of cancer worldwide with a 5‐year survival rate of 10%–20%, with the primary risk factor of esophageal adenocarcinoma (OAC) being the development of Barrett's Esophagus (BO).
Louise Lawless, Trevor Doherty, Carla Surlis, Niamh Gilmartin, Therese M. Murphy   +4 more
wiley   +1 more source

Synaptic Mitochondrial Oxidative Stress Contributes to Individual Variability in Age‐Related Cognitive Inflexibility in Mice

Aging Cell, Volume 25, Issue 9, September 2026.
Aged mice showed substantial individual variability in cognitive inflexibility, associated with greater abundance of synapse‐associated mitochondrial proteins in the medial prefrontal cortex. The mitochondria‐targeted antioxidant MitoQ improved attentional set‐shifting performance and reduced the abundance of synaptosomal mitochondrial proteins ...
Rui Yamada, Hirotaka Nagai, Chisato Numa, Yunhui Zhu, Midori Nagai, Kohei Ota, Yusuke Kawashima, Nobuhiko Ohno, Tomoyuki Furuyashiki   +8 more
wiley   +1 more source

Lentiviral-mediated stable silencing of Abcd1 in human U87 astrocytoma and rat B12 oligodendrocytes.

, 2013
Pool of three GFP-tagged lentiviral-shRNAs for Abcd1 was used for transduction of human U87 astrocytes and rat B12 oligodendrocytes. Human U87 astrocytoma cells (U87-astrocytes) and rat B12 oligodendrocytes (B12 oligodendrocytes) were tranduced with ...
Inderjit Singh (33771), Aurora Pujol (22834), Mauhamad Baarine (584660), Jaspreet Singh (533281), Mushfiquddin Khan (584659)   +4 more
core   +1 more source

Central precocious puberty in a boy with X-linked adrenoleukodystrophy caused by a novel ABCD1 mutation

Heliyon
X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder caused by pathogenic variants in the ABCD1 gene. The symptoms include primary adrenal insufficiency (PAI), progressive spinal cord disease, inflammatory demyelinating cerebral disease, and ...
Chaoyue Zhao, Hanhong Zhu, Jie Wang, Wenlong Liu, Yongzhen Xue, Yanyan Hu   +5 more
doaj   +1 more source

The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in California

International Journal of Neonatal Screening, 2020
Since the start of X-linked adrenoleukodystrophy (ALD) newborn screening in California, more than half of the diagnosed cases were found to have an ATP binding cassette subfamily D member 1 (ABCD1) gene variant of uncertain significance (VUS).
Hao Tang, Jamie Matteson, Piero Rinaldo, Silvia Tortorelli, Robert Currier, Stanley Sciortino   +5 more
doaj   +1 more source

Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy

, 2018
Mutations in the ABCD1 gene that encodes peroxisomal ABCD1 protein cause X-linked adrenoleukodystrophy (X-ALD), a rare neurodegenerative disorder. More than 70% of the patient fibroblasts with this missense mutation display either a lack or reduction of ...
Kosuke Kawaguchi, Stephan Kemp, Yamazaki, Kozue, Matsumoto, Shun, Kemp, Stephan, Kojima, Hirotatsu, Shimozawa, Nobuyuki, Ronald J. Wanders, Sato, Airi, Kozue Yamazaki, Shun Matsumoto, Hirotatsu Kojima, Morita, Masashi, Imanaka, Tsuneo, Okabe, Takayoshi, Masashi Morita, Nobuyuki Shimozawa, Inoue, Kengo, Kawaguchi, Kosuke, Airi Sato, Kengo Inoue, Kostsin, Dzmitry G, Dzmitry G. Kostsin, Takayoshi Okabe, Tsuneo Imanaka, Wanders, Ronald J   +25 more
core   +1 more source

Transforming Brain Health With Neurotechnological Convergence (Part I): Precision Diagnostics and Targeted Interventions

Brain Health, Volume 1, Issue 2, 24 June 2026.
ABSTRACT Brain disorders are a critical global health challenge, affecting approximately half the world's population (∼4 billion individuals) in 2021 and accounting for 5139 disability‐adjusted life years per 100,000 population. The ramifications extend well beyond clinical manifestations to substantial economic losses, strained healthcare systems, and
Yangyang Duan, Yifan Fu, Zehan Wu, Wenyue Zheng, Ge Lv, Liang Chen, Jiawen Wu, Zao Han, Qing Dai, Quansheng Gu, Hiu Yi Wong, Amy K. Y. Fu, Ying Mao, Nancy Y. Ip   +13 more
wiley   +1 more source

Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree. [PDF]

PLoS ONE, 2013
X-linked adrenoleukodystrophy (X-ALD) is an inherited neurodegenerative disorder caused by mutations in the ABCD1 gene. Approximately 20% of X-ALD female carriers may develop neurological symptoms. Skewed X chromosome inactivation (XCI) has been proposed
Zhihong Wang, Aizhen Yan, Yuxiang Lin, Haihua Xie, Chunyan Zhou, Fenghua Lan   +5 more
doaj   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Isolated Corticospinal Tract Lesions as an Early Manifestation of Adrenoleukodystrophy in Children

Annals of the Child Neurology Society, Volume 4, Issue 2, Page 117-124, June 2026.
ABSTRACT Purpose X‐linked adrenoleukodystrophy (ALD) encompasses a wide range of neurological manifestations, classically described as distinct phenotypes including childhood cerebral adrenoleukodystrophy and adult‐onset adrenomyeloneuropathy (AMN).
Elle Winter, Amanda Nagy, Yedda Li, Otto Rapalino, Catherine L. Becker, Joseph Locascio, Camilo Jaimes, Florian Eichler   +7 more
wiley   +1 more source