Results 31 to 40 of about 675,403 (292)

Characteristics of the Kelch domain containing (KLHDC) subfamily and relationships with diseases

open access: yesFEBS Letters, EarlyView.
The Kelch protein superfamily includes 63 members, with the KLHDC subfamily having 10 proteins. While their functions are not fully understood, recent advances in KLHDC2's structure and role in protein degradation have highlighted its potential for drug development, especially in PROTAC therapies.
Courtney Pilcher   +6 more
wiley   +1 more source

Rapid and inexpensive body fluid identification by RNA profiling-based multiplex High Resolution Melt (HRM) analysis [v2; ref status: indexed, http://f1000r.es/314]

open access: yesF1000Research, 2014
Positive identification of the nature of biological material present on evidentiary items can be crucial for understanding the circumstances surrounding a crime.
Erin K. Hanson, Jack Ballantyne
doaj   +1 more source

Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers

open access: yesJMIR Medical Informatics, 2021
BackgroundParticipation in quality controls, also called external quality assessment (EQA) schemes, is required for the ISO15189 accreditation of the Medical Centers of Human Genetics.
Joséphine Lantoine   +19 more
doaj   +1 more source

Structural and mechanistic basis for the regulation of the chloroplast signal recognition particle by (p)ppGpp

open access: yesFEBS Letters, EarlyView.
LHCPs are transported to the thylakoid membrane via the (cp)SRP pathway. This process involves a transit complex of (cp)SRP43, (cp)SRP54 and LHCP, which interacts with (cp)FtsY and Alb3 at the membrane. GTP hydrolysis by (cp)SRP54 and (cp)FtsY triggers complex dissociation.
Victor Zegarra   +7 more
wiley   +1 more source

Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles [version 1; referees: 2 approved]

open access: yesF1000Research, 2015
The study of primary cilia is of broad interest both in terms of disease pathogenesis and the fundamental biological role of these structures. Murine models of ciliopathies provide valuable tools for the study of these diseases.
Simon Ramsbottom   +2 more
doaj   +1 more source

GEMINI: integrative exploration of genetic variation and genome annotations [PDF]

open access: yes, 2013
Modern DNA sequencing technologies enable geneticists to rapidly identify genetic variation among many human genomes. However, isolating the minority of variants underlying disease remains an important, yet formidable challenge for medical genetics. We have developed GEMINI (GEnome MINIng), a flexible software package for exploring all forms of human ...
arxiv   +1 more source

A Conversation with Robert C. Elston [PDF]

open access: yesStatistical Science 2015, Vol. 30, No. 2, 258-267, 2015
Robert C. Elston was born on February 4, 1932, in London, England. He went to Cambridge University to study natural science from 1952-1956 and obtained B.A., M.A. and Diploma in Agriculture (Dip Ag). He came to the US at age 24 to study animal breeding at Cornell University and received his Ph.D. in 1959.
arxiv   +1 more source

Genetics in medical practice [PDF]

open access: yesGenetics in Medicine, 2002
Medical genetics has been formally recognized as a medical specialty in the United States only within the past decade. Initially, medical genetics was concerned with relatively rare single gene or chromosomal disorders, but with the sequencing of the human genome, genetics has become the driving force in medical research and is now poised for ...
openaire   +2 more sources

Unraveling Mycobacterium tuberculosis acid resistance and pH homeostasis mechanisms

open access: yesFEBS Letters, EarlyView.
Mycobacterium tuberculosis exhibits a remarkable resilience to acid stress. In this Review, we discuss some of the molecular mechanisms and metabolic pathways used by the tubercle bacilli to adapt and resist host‐mediated acid stress. Mycobacterium tuberculosis (Mtb) is a successful pathogen that has developed a variety of strategies to survive and ...
Janïs Laudouze   +3 more
wiley   +1 more source

Rapid and inexpensive body fluid identification by RNA profiling-based multiplex High Resolution Melt (HRM) analysis [v1; ref status: indexed, http://f1000r.es/2hj]

open access: yesF1000Research, 2013
Positive identification of the nature of biological material present on evidentiary items can be crucial for understanding the circumstances surrounding a crime.
Erin K. Hanson, Jack Ballantyne
doaj   +1 more source

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