Results 91 to 100 of about 753,352 (304)
Identification of somatic mutation-driven enhancers and their clinical utility in breast cancer
iScienceSummary: Somatic mutations contribute to cancer development by altering the activity of enhancers. In the study, a total of 135 mutation-driven enhancers, which displayed significant chromatin accessibility changes, were identified as candidate risk ...
Hongying Zhao +9 more
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Revisión bibliográfica y extractos de revistas
Revista Colombiana de Obstetricia y Ginecología, 1965 "Medical, surgical anda ginecologic complications of pregnancy" "Progress in medical genetics"
Federación Colombiana de Obstetricia y Ginecología
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The ubiquitin ligase RNF115 is required for the clearance of damaged lysosomes
FEBS Letters, EarlyView.Upon lysosomal rupture, an E3 ubiquitin ligase RNF115 translocates from the cytosol to the damaged lysosomal membrane. Moreover, RNF115 depletion impairs the clearance of damaged lysosomes, identifying it as a key regulator of lysosomal quality control.
Sae Nakanaga +3 more
wiley +1 more source
Medicine in the Beehive State: Chapter 38: Human genetics
, 1992 This is a chapter on the history of the Department of Human Genetics at the University of Utah taken from the book, Medicine in the Beehive State, 1940-1990, edited by Henry P.
Leppert, Mark F., Gesteland, Raymond F.
core
Development of clinical genetics in Asia
, 2019 This Special Issue on Clinical Genetics in Asia highlights a collection of articles showing the growth, development, and current status of clinical genetics in Asia.
Lai, PS +5 more
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Genealogical data in population medical genetics: field guidelines
Genetics and Molecular Biology, 2014 This is a guide for fieldwork in Population Medical Genetics research projects. Data collection, handling, and analysis from large pedigrees require the use of specific tools and methods not widely familiar to human geneticists, unfortunately leading to ...
Fernando A. Poletta +2 more
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pH‐mediated activation of the lysosomal arginine sensor SLC38A9
FEBS Letters, EarlyView.Cells monitor nutrient levels via the lysosomal transporter SLC38A9 to activate the mechanistic target of rapamycin complex 1 (mTORC1). This study reveals that SLC38A9 function is regulated by pH. We identified histidine 544 as a critical pH sensor that undergoes conformational changes to control amino acid efflux from lysosomes; therefore, it ...
Xuelang Mu, Ampon Sae Her, Tamir Gonen
wiley +1 more source
The human gut microbiome across the life course
FEBS Letters, EarlyView.Despite significant individual variation and continuous change throughout life, the human gut microbiome follows some life stage‐specific trends. This article provides a brief overview of how gut microbiome composition shifts across different phases of life. Created in BioRender. Özkurt, E. (2026) https://BioRender.com/8q4nrnc.
Alise J. Ponsero +4 more
wiley +1 more source
Application of medical genetics in Turkey
The Turkish Journal of Pediatrics, 2007 Turkey is among the most populous countries of the world, and has a young population structure. The rate of consanguinity has been approximately 20-25% for the last 25 years. Various studies have shown that high consanguinity can be a contributing
Ergül Tunçbilek, Meral Ozgüç
doaj
BMC Medical EducationBackground Advances in clinical genetics have significantly impacted modern healthcare, making genetic knowledge essential for today’s medical professionals. It is crucial for general physicians to recognize when genetic or genomic testing is appropriate
Misbah Iqbal Hanif +6 more
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