Results 131 to 140 of about 55,479 (231)

Integrated Methylome–Transcriptome Analysis Reveals Epigenomic Remodeling and Rho GTPase–Linked Immune–Epithelial Crosstalk in Atopic Dermatitis

Allergy, EarlyView.
Integrated methylome–transcriptome–microbiome analysis of AD skin identified thousands of DMRs. Rho GTPase signaling and actin–junctional programs emerged as central hubs integrating immune, epithelial, and microbial interactions in the pathogenesis of atopic dermatitis.
Tiina Skoog, Ying Yang, Peter Olah, Shintaro Katayama, Piia Karisola, Catherine Smith, Stephan Weidinger, Jonathan Barker, Antti Lauerma, Björn Andersson, Bernhard Homey, Nanna Fyhrquist, Juha Kere, Harri Alenius, MAARS Consortium, Francesca Levi‐Schaffer, Dario Greco, Stefanie Prast‐Nielsen, Vassili Soumelis, Sophia Tsoka, Jens M. Schröder, Frank O. Nestle, Philippe Hupé   +22 more
wiley   +1 more source

Aniridia‐associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare genetic disorder primarily caused by pathogenic variants of the PAX6 gene. It leads to various panocular anomalies, including aniridia‐associated keratopathy (AAK). This review highlights recent insights into its pathogenesis, focusing on clinical staging, microstructural changes in the cornea and molecular ...
N. Szentmáry, S. Suiwal, M. Amini, F. N. Fries, A. Náray, L. Latta, Z. Li, S. Li, S. Liu, S. L. Hsu, S. Kundu, G. Tóth, S. Trusen, J. Zimmermann, B. Seitz, B. Käsmann‐Kellner, Z. Hoxha, A. Langenbucher, O. Stachs, M. Cortón‐Perez, K. Tory, A. Csorba, Z. Z. Nagy, M. C. Acosta, J. Gallar, M. Csidey, E. Maka, T. Stachon   +27 more
wiley   +1 more source

Application of chromosomal microarray analysis and trio whole-exome sequencing in first-trimester prenatal diagnosis for high-risk pregnancies. [PDF]

BMC Pregnancy Childbirth
Zhang Q, Cheng Y, Tang J, Li J, Cao Y, Huang D, Wang S, Zhu J.   +7 more
europepmc   +1 more source

The diagnostic performance of the basic versus the detailed telomere Flow FISH test in young patients with aplastic anaemia

British Journal of Haematology, EarlyView.
Summary Identifying telomere biology disorders (TBDs) in patients with aplastic anaemia (AA) is essential for guiding appropriate care. Telomere length (TL) measurement by flow cytometry with fluorescence in situ hybridization supports diagnosis, but the real‐world performance of the basic test (lymphocytes and granulocytes) versus the detailed test ...
Nicholas F. DeCleene, Duc T. Nguyen, Susan E. Kirk, Hannah L. Helber, Ghadir S. Sasa, Alison A. Bertuch   +5 more
wiley   +1 more source

Copy number variants in fetuses with isolated and non-isolated increased nuchal translucency detected by chromosomal microarray analysis. [PDF]

Front Genet
Huang S, Wu H, She L, Liu L.
europepmc   +1 more source

Implication of chromosomal microarray analysis prior to in-utero repair of fetal open neural tube defect. [PDF]

Ultrasound Obstet Gynecol, 2023
Zemet R, Krispin E, Johnson RM, Kumar NR, Westerfield LE, Stover S, Mann DG, Castillo J, Castillo HA, Nassr AA, Sanz Cortes M, Donepudi R, Espinoza J, Whitehead WE, Belfort MA, Shamshirsaz AA, Van den Veyver IB.   +16 more
europepmc   +1 more source

Prenatal genetic diagnosis associated with fetal ventricular septal defect: an assessment based on chromosomal microarray analysis and exome sequencing. [PDF]

Front Genet, 2023
Wang Y, Li R, Fu F, Huang R, Li D, Liao C.   +5 more
europepmc   +1 more source

A highly abundant circular RNA from the RMST locus plays a role in posterior fossa ependymoma pathogenesis

Brain Pathology, EarlyView.
circRMST (hsa_circ_0099634) is by far the most abundant isoform from the RMST locus. It is highly expressed in cancer cells throughout ependymoma patient samples and is located in the cytoplasm. circRMST knockdown causes cell cycle arrest and induces differentiation, and it is a marker for poor prognosis. The figure is made using BioRender.
Ulvi Ahmadov, Charlotte W. Udengaard, Stine M. Vissing, Silke D. Nielsen, Kim‐Gwendolyn Dietrich, Benedicte Parm Ulhøi, Lasse S. Kristensen   +6 more
wiley   +1 more source

A retrospective study for the diagnostic value of chromosomal microarray analysis in fetuses with high-risk prenatal indications. [PDF]

Front Genet
Xiao H, Xiao J, Zhang H, Huang S, Lu Q, Yuan H, Zou Y, Yang B, Liu Y.   +8 more
europepmc   +1 more source

A chromosomal microarray analysis-based laboratory algorithm for the detection of genetic etiology of early pregnancy loss. [PDF]

Front Genet, 2023
Liao N, Zhang Z, Liu X, Wang J, Hu R, Xiao L, Yang Y, Lai Y, Zhu H, Li L, Liu S, Wang H, Hu T.   +12 more
europepmc   +1 more source