Results 91 to 100 of about 1,575,758 (358)

HUMAN BIOCHEMICAL GENETICS

open access: yesBritish Medical Bulletin, 1948
RESP ...
openaire   +3 more sources

TRAF2 binds to TIFA via a novel motif and contributes to its autophagic degradation

open access: yesFEBS Letters, EarlyView.
TRAF family members couple receptor signalling complexes to downstream outputs, but how they interact with these complexes is not always clear. Here, we show that during ADP‐heptose signalling, TRAF2 binding to TIFA requires two short sequence motifs in the C‐terminal tail of TIFA, which are distinct from the TRAF6 binding motif.
Tom Snelling   +4 more
wiley   +1 more source

The epithelial barrier theory proposes a comprehensive explanation for the origins of allergic and other chronic noncommunicable diseases

open access: yesFEBS Letters, EarlyView.
Exposure to common noxious agents (1), including allergens, pollutants, and micro‐nanoplastics, can cause epithelial barrier damage (2) in our body's protective linings. This may trigger an immune response to our microbiome (3). The epithelial barrier theory explains how this process can lead to chronic noncommunicable diseases (4) affecting organs ...
Can Zeyneloglu   +17 more
wiley   +1 more source

Interview with Huda Zoghbi [PDF]

open access: yes, 2016
An oral history interview with Dr. Huda Zoghbi about her career at Baylor College of Medicine in the Texas Medical Center. She worked as a professor in the Departments of Pediatrics, Molecular and Human Genetics, Neurology and Neuroscience at Baylor ...
Zoghbi, Huda, MD
core   +1 more source

The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues [PDF]

open access: yes, 2006
The interface between assisted reproductive technologies (ART) and genetics comprises several sensitive and important issues that affect infertile couples, families with severe genetic diseases, potential children, professionals in ART and genetics ...
ANASTASIADOU V   +18 more
core   +1 more source

Goodbye flat lymphoma biology

open access: yesFEBS Letters, EarlyView.
Three‐dimensional (3D) biological systems have become key tools in lymphoma research, offering reliable in vitro and ex vivo platforms to explore pathogenesis and support precision medicine. This review highlights current 3D non‐Hodgkin lymphoma models, detailing their features, advantages, and limitations, and provides a broad perspective on future ...
Carla Faria   +3 more
wiley   +1 more source

Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations

open access: yesOrphanet Journal of Rare Diseases, 2019
Background Glanzmann thrombasthenia (GT) is a rare autosomal recessive abnormality of platelet aggregation with quantitative and/or qualitative abnormality of αIIbβ3 integrin.
F. Zafarghandi Motlagh   +9 more
doaj   +1 more source

A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1

open access: yeseLife, 2020
Primary Ovarian Insufficiency (POI) is a major cause of infertility, but its etiology remains poorly understood. Using whole-exome sequencing in a family with three cases of POI, we identified the candidate missense variant S167L in HSF2BP, an essential ...
Natalia Felipe-Medina   +13 more
doaj   +1 more source

Principles of Human Genetics

open access: yesPopulation (French Edition), 1950
Includes bibliographies. ; Mode of access: Internet.
J. S., Curt Stern
openaire   +2 more sources

From omics to AI—mapping the pathogenic pathways in type 2 diabetes

open access: yesFEBS Letters, EarlyView.
Integrating multi‐omics data with AI‐based modelling (unsupervised and supervised machine learning) identify optimal patient clusters, informing AI‐driven accurate risk stratification. Digital twins simulate individual trajectories in real time, guiding precision medicine by matching patients to targeted therapies.
Siobhán O'Sullivan   +2 more
wiley   +1 more source

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