Results 141 to 150 of about 319,715 (326)

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  

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

open access: yesThe Journal of Dermatology, EarlyView.
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley   +1 more source

Morpho -genetic variability in F 2 progeny cowpea genotypes tolerant to bruchid (Callosobruchus maculatus) [PDF]

open access: yesJournal of Agricultural Sciences (Belgrade), 2019
Callosobruchus maculatus Fab. is a major threat to cowpea production reducing the quality, quantity and market value of cowpea grains. A cheap and easy identification method would be a valuable tool in identifying and breeding resistant genotypes in the ...
Amusa Oluwafemi D.   +4 more
doaj  

Pathogenesis of Vitiligo: Integrating Immune and Non‐Immune Cell Crosstalk

open access: yesThe Journal of Dermatology, EarlyView.
ABSTRACT Vitiligo is an acquired autoimmune disease characterized by depigmented macules resulting from melanocyte loss. It is a complex multifactorial disorder in which genetic predisposition is combined with environmental factors; however, its detailed etiology remains unclear.
Shintaro Inoue
wiley   +1 more source

Implications of uniparental disomy in forensic kinship testing: A case study of paternal isodisomy on chromosome 3

open access: yesJournal of Forensic Sciences, EarlyView.
Abstract In typical inheritance, a child receives one chromosome of each pair from each parent. In rare cases, however, both chromosomes may be inherited from the same parent, a phenomenon known as uniparental disomy (UPD). In forensic kinship testing, UPD can lead to Mendelian inconsistencies between parent and child, increasing the risk of ...
Hannah Fontanil   +3 more
wiley   +1 more source

Genetic engineering for SIT application: a fruit fly‐focused review

open access: yesInsect Science, EarlyView.
Abstract Sterile insect technique (SIT) has become a key component of efficient pest control. Fruit fly pests from the Drosophilidae and Tephritidae families pose a substantial and overwhelmingly increasing threat to the agricultural industry, aggravated by climate change and globalization among other contributors.
Serafima Davydova   +2 more
wiley   +1 more source

Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autism. [PDF]

open access: yesGenome Res, 2022
Annear DJ   +4 more
europepmc   +1 more source

Functional validation of a white pupae minimal gene construct in Ceratitis capitata (Diptera: Tephritidae)

open access: yesInsect Science, EarlyView.
An intronless version of the white pupae (wp) gene was engineered to restore the wild type brown puparium color in white pupae phenotype mutants of the Mediterranean fruit fly, Ceratitis capitata. Functionality of the minimal gene version (mini‐wp) was verified in vivo, as one copy of mini‐wp successfully restored the wild type phenotype in homozygous ...
Lucas Henrique Figueiredo Prates   +4 more
wiley   +1 more source

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