Results 131 to 140 of about 387,749 (347)

TP53 R249S mutation in hepatic organoids captures the predisposing cancer risk

Hepatology, EarlyView., 2022
The systematic approach in elucidating the gain‐of‐function (GOF) roles of TP53 mutations in early liver carcinogenesis. Unique downstream targets of TP53 L3 mutations were identified from chormatin immunoprecipitation sequencing in HCC cell lines, followed by a series of validation assays to substantiate the exclusive transcriptional regulations ...
Yin Kau Lam, Jianqing Yu, Hao Huang, Xiaofan Ding, Alissa M. Wong, Howard H. Leung, Anthony W. Chan, Kelvin K. Ng, Mingjing Xu, Xin Wang, Nathalie Wong   +10 more
wiley   +1 more source

Anhydrotic Ectodermal Dysplasia [PDF]

, 1966
R S Wells
openalex   +1 more source

Bronchopulmonary dysplasia

Nature Reviews Disease Primers, 2019
B. Thébaud, K. Goss, M. Laughon, J. Whitsett, S. Abman, Robin H. Steinhorn, J. Aschner, P. Davis, S. McGrath-Morrow, Roger F. Soll, A. Jobe   +10 more
semanticscholar   +1 more source

Statistical shape modeling of the human inner ear through micro‐computed tomography imaging

The Anatomical Record, EarlyView.
In this study, 54 cadaveric temporal bone specimens underwent high‐resolution micro‐CT imaging. Images were semi‐automatically segmented and converted to 3D surface mesh models for morphological measurement and analysis. Statistical shape models were created for the inner ear, cochlea, and vestibular system, as well as for sex‐ and side‐based subgroups.
Carmine Spedaliere, Alexandra Vaupotic, Jaehyun Hwang, Khalil Husein, Mustafa Hafidh, Kyle Rioux, S. Alireza Rohani, Sumit K. Agrawal, Hanif M. Ladak   +8 more
wiley   +1 more source

Cbfa1, a Candidate Gene for Cleidocranial Dysplasia Syndrome, Is Essential for Osteoblast Differentiation and Bone Development

Cell, 1997
F. Otto, A. Thornell, T. Crompton, A. Denzel, K. C. Gilmour, I. Rosewell, G. Stamp, R. Beddington, S. Mundlos, B. Olsen, P. Selby, M. Owen   +11 more
semanticscholar   +1 more source

Thanatophoric Dysplasia —A Lethal Skeletal Dysplasia

Journal of Enam Medical College, 2016
Abstract not availableJ Enam Med Col 2016; 6(1): 55 ...
openaire   +2 more sources

Noncoding RNAs in Host–Microbiota Interaction

Animal Research and One Health, EarlyView.
The intricate interplay between gut microbiota and the host exerts a profound impact on host biological processes and disease development. This review highlights the pivotal role of noncoding RNAs (ncRNAs) in this interaction. Host ncRNAs regulate gene expression and microbiota composition, whereas microbial small RNAs (sRNAs) modulate host gene ...
Ziyi Zhao, Ni Li, Jingyi Xu, Jianrong Ren, Xiaojun Yang, Xinyi Li, Junhu Yao, Shengru Wu   +7 more
wiley   +1 more source

Mongoloid Features with Normal Chromosomes—Dysplasia Epiphysialis Punctata [PDF]

, 1967
S R Meadow, Ronald Mackeith
openalex   +1 more source

American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel

Arthritis &Rheumatology, EarlyView.
Objective Vacuoles E1 enzyme X‐linked autoinflammatory somatic syndrome (VEXAS) is a recently identified rare genetic disorder associated with somatic mutations in the UBA1 gene. VEXAS presents with a combination of inflammatory and hematologic manifestations, leading to increased morbidity and mortality.
Arsene M. Mekinian, Sophie Georgin‐Lavaille, Marcela A. Ferrada, Sinisa Savic, Matthew J. Koster, Olivier Kosmider, Thibault Comont, Mael Heilblig, Juan I. Arostegui, Annmarie Bosco, Rim Bourguiba, Katherine R. Calvo, Catherine Cargo, Chiara Cattaneo, François Chasset, Henrique Coelho, Corrado Campochiaro, Francesca Crisafulli, Stephanie Ducharme‐Benard, Raquel Faria, Franco Franceschini, Micol Frassi, Emma M. Groarke, Carmelo Gurnari, Yervand Hakobyan, Yvan Jamilloux, Ciprian Jurcut, Yohei Kirino, Austin Kulasekararaj, Hiroyoshi Kunimoto, Lauren M. Madigan, Heřman F. Mann, Chiara Marvisi, Marcin Milchert, Sara Morais, Katja Sockel, Francesco Muratore, Hideaki Nakajima, Mrinal M. Patnaik, Luísa Regadas, Marie Robin, Abraham Rutgers, Carlo Salvarani, Anthony M. Sammel, Joerg Seebach, Pierre Sujobert, Alessandro Tomelleri, Geoffrey Urbanski, Frédéric Vandergheynst, Romana Vieira, David S. Viswanatha, Ewa Więsik‐Szewczyk, Elisa Diral, Benjamin Terrier, Bhavisha A. Patel, Pierre Fenaux, Peter C. Grayson, David B. Beck, on behalf of the International VEXAS working group, and with endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases, Heřman Mann, Benjamin Terrier, François Chasset, Sophie Georgin Lavialle, Alessandro Tomelleri, Campochiaro Corrado, Carlo Salvarani, Francesca Crisafulli, Franco Franceschini, Micol Frassi, Yohei Kirino, Ewa Więsik‐Szewczyk, Marcin Milchert, Raquel Faria, Ciprian Jurcut, Joerg Seebach, Sinisa Savic, David Beck, Lauren Madigan, Matthew Koster, Patnaik Mrinal, Olivier Kosmider, Pierre Sujobert, Juan I. Arostegui, Catherine Cargo, David Viswanatha, Yervand Hagopian, Mael Heilblig, Pierre Fenaux, Thibault Comont, Bruno Alessandro, Chiara Cattaneo, Elisa Diral, Sara Morais, Austin Kulasekarara, Emma Groarke, Katherine Calvo, Patel Bhavisha, Anthony Sammel, Arsene Mekinian, Benjamin Terrier, Marie Robin, Sophie Georgin Lavialle, Katja Sockel, Yvan Jamilloux, Carmelo Gurnari, Henrique Coelho, Romana Vieira, Rim Bourguiba, Marcela Ferrada, Peter Grayson   +111 more
wiley   +1 more source

ASSESSMENT OF EXTRACELLULAR AND INTRACELLULAR PROTEOLYSIS IN PRETUMOR AND TUMOR DISEASES OF THE LARYNX

Сибирский онкологический журнал, 2016
The expression of matrix metalloproteinase (MMP) genes and activity of proteasomes and calpains were studied in patients with precancerous laryngeal lesions and laryngeal cancer.
I. V. Kondakova, G. V. Kakurina, L. V. Spirina, О. V. Cheremisina, О. V. Pankova, К. Yu. Menshikov   +5 more
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