Results 101 to 110 of about 145,057 (324)

Clinical and genetic heterogeneity in autosomal dominant cataract [PDF]

open access: yesBritish Journal of Ophthalmology, 1999
To determine the different morphologies of autosomal dominant cataract (ADC), assess the intra- and interfamilial variation in cataract morphology, and undertake a genetic linkage study to identify loci for genes causing ADC and detect the underlying mutation.Patients were recruited from the ocular genetic database at Moorfields Eye Hospital.
A, Ionides   +6 more
openaire   +3 more sources

The ubiquitin ligase RNF115 is required for the clearance of damaged lysosomes

open access: yesFEBS 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

AAA+ protein unfoldases—the Moirai of the proteome

open access: yesFEBS Letters, EarlyView.
AAA+ unfoldases are essential molecular motors that power protein degradation and disaggregation. This review integrates recent cryo‐electron microscopy (cryo‐EM) structures and single‐molecule biophysical data to reconcile competing models of substrate translocation.
Stavros Azinas, Marta Carroni
wiley   +1 more source

Association mapping of genetic network for plant morphological traits in cotton

open access: yes浙江大学学报. 农业与生命科学版, 2016
Morphological traits played an important role in vegetative growth of cotton (Gossypium hirsutum L.), and also had an critical impact on reproductive growth.
MEI Yongjun   +8 more
doaj   +1 more source

The molecular basis of genetic dominance. [PDF]

open access: yesJournal of Medical Genetics, 1994
Studies of mutagenesis in many organisms indicate that the majority (over 90%) of mutations are recessive to wild type. If recessiveness represents the 'default' state, what are the distinguishing features that make a minority of mutations give rise to dominant or semidominant characters?
openaire   +2 more sources

The human gut microbiome across the life course

open access: yesFEBS 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

Kinesthetically Exploring Chromosomes from Cell Division and Meiosis to Mendelian Genetics

open access: yesJournal of Microbiology & Biology Education, 2017
Physical models are widely used to help students understand what happens to chromosomes during mitosis and meiosis. They can also be used to explicate the genotype-phenotype map.
Richard H. Heineman
doaj   +1 more source

Degradation mechanism of the von Willebrand factor A2 domain by nattokinase

open access: yesFEBS Letters, EarlyView.
Nattokinase, a natto‐derived protease, exhibits potent antithrombotic effects. This study demonstrates that nattokinase directly cleaves the von Willebrand factor (vWF) A2 domain in vitro. Unlike the native regulator ADAMTS13, nattokinase degrades folded vWF independently of shear stress.
Ryuichi Hyakumoto   +3 more
wiley   +1 more source

A complete classification of epistatic two-locus models

open access: yesBMC Genetics, 2008
Background The study of epistasis is of great importance in statistical genetics in fields such as linkage and association analysis and QTL mapping. In an effort to classify the types of epistasis in the case of two biallelic loci Li and Reich listed and
Yuster Debbie S   +1 more
doaj   +1 more source

Infrared laser sampling of low volumes combined with shotgun lipidomics reveals lipid markers in palatine tonsil carcinoma

open access: yesMolecular Oncology, EarlyView.
Nanosecond infrared laser (NIRL) low‐volume sampling combined with shotgun lipidomics uncovers distinct lipidome alterations in oropharyngeal squamous cell carcinoma (OPSCC) of the palatine tonsil. Several lipid species consistently differentiate tumor from healthy tissue, highlighting their potential as diagnostic markers.
Leonard Kerkhoff   +11 more
wiley   +1 more source

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