Results 131 to 140 of about 79,198 (289)

BIPARENTAL INHERITANCE OF NON-MENDELIAN GENE MARKERS IN CHLAMYDOMONAS MOEWUSII

open access: yesGenetics, 1986
ABSTRACT The first two non-Mendelian gene mutations to be identified in Chlamydomonas moewusii are described. These putative chloroplast gene mutations include one for resistance to streptomycin (sr-nM1) and one for resistance to erythromycin (er-nM1).
R W, Lee, C, Lemieux
openaire   +2 more sources

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas   +7 more
wiley   +1 more source

Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives

open access: yesPediatric Investigation, EarlyView.
Newborn screening shifts from biochemical to genetic methods. Global exploration is promising but requires overcoming challenges and international collaboration to optimize implementation. ABSTRACT Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early ...
Zhelan Huang, Wenhao Zhou
wiley   +1 more source

Genetic markers as instrumental variables: an application to child fat mass and academic achievement [PDF]

open access: yes
The use of genetic markers as instrumental variables (IV) is receiving increasing attention from economists. This paper examines the conditions that need to be met for genetic variants to be used as instruments.
Carol Propper   +4 more
core   +3 more sources

The role of the A C395 IFNGR1 mutation in determining susceptibility to intracellular infection in Malta [PDF]

open access: yes, 2012
Background: The first human mycobacterial susceptibility gene was identified amongst four children on the island of Malta in 1995. All affected children were homozygous for a nonsense mutation at position 395 of the interferon gamma receptor 1 (IFNGR1 ...
Anderson, Suzanne T.   +6 more
core  

Advancing Extracellular Vesicle Research: A Review of Systems Biology and Multiomics Perspectives

open access: yesPROTEOMICS, EarlyView.
ABSTRACT Extracellular vesicles (EVs) are membrane‐bound vesicles secreted by various cell types into the extracellular space and play a role in intercellular communication. Their molecular cargo varies depending on the cell of origin and its functional state.
Gloria Kemunto   +2 more
wiley   +1 more source

Extending the Use of Mendelian Randomisation With Non-Inherited Variants to Assess Socially Transmitted Parental Exposures Under Assortative Mating. [PDF]

open access: yesGenet Epidemiol
ABSTRACT A longstanding aim of developmental psychology and epidemiology is to understand the causal effects of parental phenotypes on offspring outcomes. Traditional approaches often fail to account for confounding and reverse causation. We evaluate the use of Mendelian randomisation with non‐inherited variants (MR‐NIV) to address these limitations ...
Woolf B   +6 more
europepmc   +2 more sources

Introducing Epigenetics Into Secondary School Classrooms—An Educational Design Study

open access: yesScience Education, EarlyView.
ABSTRACT Although epigenetics represents an emerging field of biological research with a potentially large influence on society as well as conceptual implications on how genetics is understood, it is often not a part of the biology education provided at secondary schools.
Karin Thörne   +2 more
wiley   +1 more source

Chinese Clinical Practice Guidelines for Auditory Neuropathy (gCAN)

open access: yesWorld Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Auditory neuropathy (AN) is an auditory disorder that affects the function of the auditory pathway. An increasing number of AN cases have been identified with the revelation of the underlying mechanisms, the advancements of diagnostic and detecting techniques.
Chinese Multi‐Center Research Collaborative Group on Clinical Diagnosis and Intervention of Auditory Neuropathy; Editorial Board of Chinese Journal of Otorhinolaryngology Head and Neck Surgery; Society of Otorhinolaryngology Head and Neck Surgery   +43 more
wiley   +1 more source

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