Results 181 to 190 of about 9,771,651 (424)

Estimating the number of diseases – the concept of rare, ultra-rare, and hyper-rare

iScience, 2022
Summary: At the dawn of the personalized medicine era, the number of rare diseases has been estimated at 10,000. By considering the influence of environmental factors together with genetic variations and our improved diagnostic capabilities, an ...
C. I. Edvard Smith, Peter Bergman, Daniel W. Hagey   +2 more
doaj  

Guidelines for DNA banking. Report of the Clinical Genetics Society working party on DNA banking. [PDF]

, 1989
John R.W. Yates, S Malcolm, Andrew Read
openalex   +1 more source

The accumulation of myeloid‐derived suppressor cells participates in abdominal infection‐induced tumor progression through the PD‐L1/PD‐1 axis

Molecular Oncology, EarlyView.
This study explores how sepsis affects GC progression by creating an immunosuppressive environment. Our findings reveal that sepsis promotes immune dysregulation, enhancing tumor growth and metastasis. Targeting the PD‐1/PD‐L1 pathway with monoclonal antibodies shows potential for restoring immune function and improving outcomes in cancer patients ...
Yiding Wang, Ting Guo, Xiaofang Xing, Xijuan Liu, Xuejun Gan, Yingai Li, Yan Liu, Fei Shan, Zhouqiao Wu, Jiafu Ji, Ziyu Li   +10 more
wiley   +1 more source

Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data. [PDF]

Hum Mutat, 2021
Scelsi HF, Barlow BM, Saccuzzo EG, Lieberman RL.   +3 more
europepmc   +1 more source

Molecular genetics in clinical practice: evolution of a DNA diagnostic service. [PDF]

, 1988
Andrea L. Meredith, Meena Upadhyaya, Peter S. Harper   +2 more
openalex   +1 more source

NanoCMSer: a consensus molecular subtype stratification tool for fresh‐frozen and paraffin‐embedded colorectal cancer samples

Molecular Oncology, EarlyView.
Consensus molecular subtypes (CMS1‐4) have been identified to study colorectal cancer heterogeneity and serve as potential biomarkers. In this study, we developed and evaluated NanoCMSer, a NanoString‐based classifier using 55 genes, optimized for FF and FFPE to facilitate the clinical evaluation of CMS subtyping.
Arezo Torang, Simone van de Weerd, Veerle Lammers, Sander van Hooff, Inge van den Berg, Saskia van den Bergh, Miriam Koopman, Jan N. IJzermans, Jeanine M. L. Roodhart, Jan Koster, Jan Paul Medema   +10 more
wiley   +1 more source

Medical genetics: Development of ethical dimensionsin clinical practice and research [PDF]

, 2016
A Witness Seminar on the emergence of complex ethical issues in clinical genetics practice, the evolution of these issues over several decades of advances in medical genetics research and social change, and the professionalization of this field.
Jones, EM, Tansey, EM
core  

Prompting Whole Slide Image Based Genetic Biomarker Prediction [PDF]

arXiv
Prediction of genetic biomarkers, e.g., microsatellite instability and BRAF in colorectal cancer is crucial for clinical decision making. In this paper, we propose a whole slide image (WSI) based genetic biomarker prediction method via prompting techniques.
arxiv  

Obesity alters the fitness of peritumoral adipose tissue, exacerbating tumor invasiveness in renal cancer through the induction of ADAM12 and CYP1B1

Molecular Oncology, EarlyView.
Tumor microenvironment drives cancer formation and progression. We analyzed the role of human cancer‐associated adipocytes from patients with renal cell carcinoma (RCC) stratified as lean, overweight, or obese. RNA‐seq demonstrated that, among the most altered genes involved in the tumor–stroma crosstalk, are ADAM12 and CYP1B1, which were proven to be ...
Sepehr Torabinejad, Caterina Miro, Annarita Nappi, Francesco Del Giudice, Annunziata Gaetana Cicatiello, Serena Sagliocchi, Lucia Acampora, Federica Restolfer, Melania Murolo, Emery Di Cicco, Federico Capone, Ciro Imbimbo, Monica Dentice, Felice Crocetto   +13 more
wiley   +1 more source

Penalized EM algorithm and copula skeptic graphical models for inferring networks for mixed variables

, 2014
In this article, we consider the problem of reconstructing networks for continuous, binary, count and discrete ordinal variables by estimating sparse precision matrix in Gaussian copula graphical models.
Abegaz, Fentaw, Wit, Ernst
core   +1 more source