Results 91 to 100 of about 944,231 (329)

X-linked lymphoproliferative disease type 1: a clinical and genetic update

Frontiers in Immunology
X-linked lymphoproliferative disease (XLP), also known as Duncan’s disease, is a primary immunodeficiency disorder linked to the X chromosome. In 1998, SH2D1A, which encodes the signaling lymphocyte activation molecule (SLAM)-associated protein (SAP), was identified as the first pathogenic gene associated with XLP. To date, more than 100 mutation sites
Jiaxun Li, Luyu Lv, Qingqing Wei, Wenpeng Pang, Chunjuan He, Hao Wu, Liping Guo, Liping Guo   +7 more
openaire   +2 more sources

Investigating the cell of origin and novel molecular targets in Merkel cell carcinoma: a historic misnomer

Molecular Oncology, EarlyView.
This study indicates that Merkel cell carcinoma (MCC) does not originate from Merkel cells, and identifies gene, protein & cellular expression of immune‐linked and neuroendocrine markers in primary and metastatic Merkel cell carcinoma (MCC) tumor samples, linked to Merkel cell polyomavirus (MCPyV) status, with enrichment of B‐cell and other immune cell
Richie Jeremian, Sriraam Sivachandran, Melissa Galati, Brandon Ramchatesingh, Hibo Rijal, Johnny Hanna, Elena Netchiporouk, May Chergui, Margaret Redpath, Samy Abou Setah, Ivan V. Litvinov   +10 more
wiley   +1 more source

Prion-induced neurotoxicity: Possible role for cell cycle activity and DNA damage response. [PDF]

, 2015
Protein misfolding neurodegenerative diseases arise through neurotoxicity induced by aggregation of host proteins. These conditions include Alzheimer's disease, Huntington's disease, Parkinson's disease, motor neuron disease, tauopathies and prion ...

core   +1 more source

YAP1::TFE3 mediates endothelial‐to‐mesenchymal plasticity in epithelioid hemangioendothelioma

Molecular Oncology, EarlyView.
The YAP1::TFE3 fusion protein drives endothelial‐to‐mesenchymal transition (EndMT) plasticity, resulting in the loss of endothelial characteristics and gain of mesenchymal‐like properties, including resistance to anoikis, increased migratory capacity, and loss of contact growth inhibition in endothelial cells.
Ant Murphy, Samuel Hartzler, Paula A. Vargas Carranza, Shyaman Jayasundara, Madison E. Yates, Nimod D. Janson, Bozhi Liu, Annaleigh Benton, Majid Kazemian, Jason A. Hanna   +9 more
wiley   +1 more source

X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling

Balkan Journal of Medical Genetics
X-linked adrenoleukodystrophy (X-ALD) is a fatal neurodegenerative disorder caused by mutations in the adenosine triphosphate-binding cassette D1 (ABCD1) gene. In this study, we report the case of a Moroccan patient diagnosed with X-ALD due to a mutation
Mansouri M, Smol T, Louhabe N, Rama M, Rada N, Fdil N, Bouskraoui M, Aboussair N   +7 more
doaj   +1 more source

Progress in the use of adeno-associated viral vectors for gene therapy [PDF]

, 2004
The development of safe and efficient gene transfer vectors is crucial for the success of gene therapy trials. A viral vector system promising to meet these requirements is based on the apathogenic adeno-associated virus (AAV-2), a member of the ...
Braun-Falco, M., Buning, H., Hallek, M.
core   +1 more source

Gut microbiota diversity is prognostic in metastatic hormone receptor‐positive breast cancer patients receiving chemotherapy and immunotherapy

Molecular Oncology, EarlyView.
In this exploratory study, we investigated the relationship between the gut microbiota and outcome in patients with metastatic hormone receptor‐positive breast cancer, treated in a randomized clinical trial with chemotherapy alone or chemotherapy in combination with immune checkpoint blockade.
Andreas Ullern, Kristian Holm, Nikolai Kragøe Andresen, Andreas Hagen Røssevold, Corinna Bang, Bjørn Naume, Johannes R. Hov, Jon Amund Kyte   +7 more
wiley   +1 more source

Mapping the genetic architecture of gene expression in human liver [PDF]

, 2008
Genetic variants that are associated with common human diseases do not lead directly to disease, but instead act on intermediate, molecular phenotypes that in turn induce changes in higher-order disease traits.
Avila-Campillo, I, Chudin, E, Derry, J, Drake, TA, Guengerich, FP, GuhaThakurta, D, Hao, K, Johnson, JM, Kasarskis, A, Kruger, MJ, Lamb, J, Lum, PY, Lusis, AJ, Mehrabian, M, Millstein, J, Molony, C, Rohl, CA, Rushmore, TH, Schadt, EE, Schuetz, E, Sieberts, S, Smith, RC, Storey, JD, Strom, SC, Suver, C, Ulrich, R, Van Nas, A, Wang, S, Yang, X, Zhang, B, Zhu, J   +30 more
core   +3 more sources

Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)

Orphanet Journal of Rare Diseases, 2006
The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome is a syndromal X-linked form of mental retardation, affecting predominantly males. The prevalence is not known for the general population.
G. Van Buggenhout, J. Fryns
semanticscholar   +1 more source

Modeling hepatic fibrosis in TP53 knockout iPSC‐derived human liver organoids

Molecular Oncology, EarlyView.
This study developed iPSC‐derived human liver organoids with TP53 gene knockout to model human liver fibrosis. These organoids showed elevated myofibroblast activation, early disease markers, and advanced fibrotic hallmarks. The use of profibrotic differentiation medium further amplified the fibrotic signature seen in the organoids.
Mustafa Karabicici, Soheil Akbari, Ceyda Caliskan, Canan Celiker, Ozden Oz, Leman Binokay, Gökhan Karakulah, Serif Senturk, Esra Erdal   +8 more
wiley   +1 more source