Results 101 to 110 of about 554,004 (364)

On the clinical picture and diagnosis of rare neurological diseases [PDF]

Саратовский научно-медицинский журнал, 2018
 The article presents clinical observation of patient H, 2007 year of birth., with X-linked adrenoleukodystrophy (X-ALD). This is a rare hereditary metabolic disease, not only in Russia but also worldwide.
Ulyanova O.V., Kutashov V.A., Brezhneva N.V.   +2 more
doaj  

The role of epigenetic factors in the pathogenesis of familial X-linked mental retardation (XLMR)

, 2010
Mental retardation (MR) is a handicap with severe implications not only for thosethat suffer from this disability, but also for their families, society and the welfaresystems which support them.
Carvill, Gemma
core  

Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing

, 2022
Background: X-linked dystonia-parkinsonism (XDP) is an adult-onset neurodegenerative disorder characterized by progressive dystonia and parkinsonism.
Joshua Laβ, Roland Dominic G. Jamora, Norbert Brüggemann, Cid Czarina E. Diesta, Kathleen Schlüter, Susen Schaake, Theresa Lüth, Joanne Trinh, Max Brand, Hauke Busch, Charles Jourdan Reyes, Ana Westenberger, Ronnie Tse, Inken Wohlers, Christine Klein, Gerard Saranza, Jelena Pozojevic, Raymond L. Rosales   +17 more
core   +1 more source

Network divergence analysis identifies adaptive gene modules and two orthogonal vulnerability axes in pancreatic cancer

Molecular Oncology, EarlyView.
Tumors contain diverse cellular states whose behavior is shaped by context‐dependent gene coordination. By comparing gene–gene relationships across biological contexts, we identify adaptive transcriptional modules that reorganize into distinct vulnerability axes.
Brian Nelson, Lyanne Delgado‐Coka, Natalia Marchenko, Luisa F. Escobar‐Hoyos, Kenneth R. Shroyer, Alisa Yurovsky, Trey Ideker, Gábor Balázsi, Thomas MacCarthy, Scott Powers   +9 more
wiley   +1 more source

MicroRNA and Rare Human Diseases

Background: The role of microRNAs (miRNAs) in the pathogenesis of rare genetic disorders has been gradually discovered. MiRNAs, a class of small non-coding RNAs, regulate gene expression by silencing target messenger RNAs (mRNAs).
Amy Goel, Himanshu Goel
core   +1 more source

Mouse very long-chain acyl-CoA synthetase in X-linked adrenoleukodystrophy

, 2002
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder characterized by accumulation of very long-chain fatty acids (VLCFA). This accumulation has been attributed to decreased VLCFA beta-oxidation and peroxisomal very long-chain acyl-CoA ...
Lu, Jyh-Feng, Kemp, Stephan, Smith, Kirby D., Heinzer, Ann K., Watkins, Paul A.   +4 more
core   +1 more source

COMP–PMEPA1 axis promotes epithelial‐to‐mesenchymal transition in breast cancer cells

Molecular Oncology, EarlyView.
This study reveals that cartilage oligomeric matrix protein (COMP) promotes epithelial‐to‐mesenchymal transition (EMT) in breast cancer. We identify PMEPA1 (protein TMEPAI) as a novel COMP‐binding partner that mediates EMT via binding to the TSP domains of COMP, establishing the COMP–PMEPA1 axis as a key EMT driver in breast cancer.
Konstantinos S. Papadakos, Gilar Gorji‐bahri, Lejla Gradjan, Julia Zajac, Kacper Gil, Yvonne Thokozile Nduku, Anna M. Blom   +6 more
wiley   +1 more source

X-linked adrenoleukodystrophy in women: a cross-sectional cohort study

, 2014
X-linked adrenoleukodystrophy is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal transporter of very long-chain fatty acids.
Verhamme, Camiel, Dijkgraaf, Marcel G. W., Dijkstra, Inge M. E., Wanders, Ronald J. A., Engelen, Marc, de Visser, Marianne, Kemp, Stephan, Barbier, Mathieu, de Bie, Rob M. A., Aubourg, Patrick A., Poll-The, Bwee T., van Geel, Bjorn M., Schür, Remmelt   +12 more
core   +1 more source

Engineered extracellular vesicles enriched with the miR‐214/199a cluster enhance the efficacy of chemotherapy in ovarian cancer

Molecular Oncology, EarlyView.
Loss of the miR‐214/199a cluster is associated with recurrence in ovarian cancer. Engineered small extracellular vesicles (m214‐sEVs) elevate miR‐214‐3p/miR‐199a‐5p in tumor cells, suppress β‐catenin, TLR4, and YKT6 signaling, reprogram tumor‐derived sEV cargo, reduce chemoresistance and migration, and enhance carboplatin efficacy and survival in ...
Weida Wang, Ayesha Alvero, Yi Qin, Mingjin Wang, Alexandra Fox, Yanfeng Li, Michael Millman, Amy Kemper, Gil Mor, Xian Shuang Liu, Michael Chopp, Zheng Gang Zhang, Yi Zhang   +12 more
wiley   +1 more source

The brain penetrant PPARγ agonist leriglitazone restores multiple altered pathways in models of X-linked adrenoleukodystrophy

, 2021
X-linked adrenoleukodystrophy (X-ALD), a potentially fatal neurometabolic disorder with no effective pharmacological treatment, is characterized by clinical manifestations ranging from progressive spinal cord axonopathy [adrenomyeloneuropathy (AMN)] to ...
Bauer, Jan, Kemp, Stephan, Pascual, S. lvia, Berger, Johannes, Vilalta, Anna, Pina, Guillem, Meya, Uwe, Weinhofer, Isabelle, Traver, Estefania, Forss-Petter, Sonja, Pizcueta, Pilar, Musolino, Patricia L., Martinell, Marc, Rodriguez-Pascau, Laura, Cerrada, Marc   +14 more
core   +1 more source