Results 151 to 160 of about 61,668 (260)

Why it is crucial to analyze non clonal chromosome aberrations or NCCAs? [PDF]

Mol Cytogenet, 2016
Heng HH, Regan SM, Liu G, Ye CJ.
europepmc   +1 more source

Chromosome aberrations [PDF]

Journal of Radiation Research, 2002
openaire   +1 more source

Stem Cell Differentiation Disperses Transcriptional Clusters via a Conserved Surface‐Condensate Trajectory

Advanced Science, EarlyView.
Stem cell differentiation follows a conserved surface condensate trajectory: H3K27ac super enhancers nucleate large RNA polymerase II clusters that grow and unfold before transcriptional activity disperses them. This work reveals how biophysical forces at enhancer surfaces dynamically build and dismantle stem cell transcription hubs, reshaping cell ...
Tim Klingberg, Irina Wachter, Agnieszka Pancholi, Matthias Akyel, Yomna Gohar, Priya Kumar, Ana Miguel Fernandes, Yuzhi Bao, Alica Schmidt‐Heydt, Marcel Piepers, Alicia Günthel, Marcel Sobucki, Elisa Kämmer, Süheyla Eroğlu‐Kayıkçı, Stephan Allgeier, Sylvia Erhardt, Vasily Zaburdaev, Carmelo Ferrai, Lennart Hilbert   +18 more
wiley   +1 more source

Mechanical Activation of Piezo1 Drives Osteoarthritis Through Kdm5c‐Mediated Epigenetic Silencing

Advanced Science, EarlyView.
Excessive mechanical stress activates Piezo1, triggering Ca2+‐dependent cytoskeletal forces that deform the nucleus and reduce H3K4me3. Kdm5c demethylates H3K4me3 at Col2a1 and Runx3 promoters. Kdm5c knockout rescues degradation. Repurposed telmisartan directly inhibits Kdm5c, blocking this axis and showing disease‐modifying efficacy in mouse OA models
Tianyou Kan, Xuran Li, Han Wang, Lin Sun, Yao Wang, Jiangdong Wu, Junqi Cui, Yiqi Yang, Kai Yuan, Linyang Chu, Liao Wang, Hanjun Li, Mengning Yan, Zhifeng Yu   +13 more
wiley   +1 more source

T2T Genome Assembly and Multi‐Omics Data Reveal Terrestrial Adaptation and Mucus Biosynthesis in Tropical Leatherleaf Slug (Laevicaulis alte)

Advanced Science, EarlyView.
A gap‐free genome assembly and multi‐omics comparison of the terrestrial slug Laevichaulis alte with an aquatic relative reveal that expansion of the VEGF family orchestrates mucus production, lipid metabolism, and immune defense—highlighting key molecular innovations for conquering life on land.
Gang Wang, Shaofang He, Zhongkai Wang, Aobo Pang, Xiaoli Sun, Rongchen Liu, Fang Wang, Sisi Chen, Zhijuan Bian, Dongcheng Wei, Liuhan Wu, Siyao Zhao, Qiuting Ji, Yiqi Sun, Niying Sun, Yushinta Fujaya, Boping Tang, Kianann Tan, Daizhen Zhang, Lianfu Chen   +19 more
wiley   +1 more source

Letter to the Editor on "Chrysotile and rock wool fibers induce chromosome aberrations and DNA damage in V79 lung fibroblast cells". [PDF]

Environ Sci Pollut Res Int, 2019
Hadley JG, Crane AE.
europepmc   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source