38 citations
,
September 2021 in “Signal Transduction and Targeted Therapy” This review discusses genetic factors contributing to susceptibility and outcomes in COVID-19, including ACE, ACE2, TMPRSS2 variants, HLA genotype, and ABO blood group, but reports no new experimental results.
27 citations
,
April 2018 in “Scientific Reports” This study found that in psoriasis patients, the K17 protein probably functions as an autoantigen, with the HLA-Cw*06:02 risk genotype strongly linked to the T cell response size.
40 citations
,
January 2017 in “Intestinal Research” This study found that among Japanese IBD patients, the NUDT15 p.Arg139Cys variant was significantly associated with thiopurine-induced leukopenia and severe hair loss, suggesting its genotyping is important for predicting these adverse events.
December 2025 in “Egyptian Journal of Basic and Applied Sciences” This study found that the JAK1 rs310241 AG genotype is associated with a 4.6-fold increased risk of alopecia areata, whereas JAK2 polymorphisms showed no significant link, suggesting a potential genetic susceptibility factor warranting further research.
12 citations
,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.
13 citations
,
November 2009 in “Journal of Dermatological Science” This article discusses various dermatological studies cited by previous authors and reports no new clinical results.
52 citations
,
October 2010 in “Antiviral Therapy” This review discusses recent advances in monophosphate prodrug strategies for HCV drug discovery, aiming to enhance oral absorption and stability, and reports no new clinical results.
35 citations
,
July 2018 in “Cell Reports” This study found that the dermal papilla of the hair follicle regulates stem cell quiescence and regeneration by modulating Shh and Wnt signaling pathways, highlighting the importance of signaling cross talk in regeneration.
29 citations
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January 2021 in “Translational Psychiatry” This study found that certain gene sets, including those involved in ligand-gated ion channel signaling and cell adhesion, are associated with Tourette syndrome, suggesting a potential neurobiological basis for the disorder.
This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.
March 2024 in “Frontiers in endocrinology” This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
21 citations
,
February 2016 in “Reproductive Biomedicine Online” This review examines how genetic variants associated with polycystic ovary syndrome affect reproductive success differently in men and women, supporting the theory that intralocus sexual conflict may explain its persistence.
29 citations
,
September 2017 in “Genes” This study found that in Merino-Southdown cross sheep, the presence of the C variant of the KRTAP26-1 gene was associated with higher wool quality, including increased wool yield and staple length.
24 citations
,
June 2021 in “Agronomy” This study found that biostimulant application in lettuce cultivation led to significant yield and phytochemical enhancements, with effects varying between green and red cultivars depending on the treatment method used.
3 citations
,
August 2022 in “Archives animal breeding/Archiv für Tierzucht” This study found that specific genetic variants of the KAP22-1 gene in Egyptian sheep breeds were significantly associated with wool traits like crimp, staple length, kemp score, and greasy color grade, suggesting their potential use in breeding programs.
2 citations
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December 2024 In this study, the researchers observed that the evolution of Curtobacterium flaccumfaciens pv. flaccumfaciens, which causes tan spot in Australian mungbeans, is driven by clonal expansion from existing genetic variations, emphasizing the need for informed breeding strategies to manage resistance against this pathogen.
September 2025 in “Animals” This study identified novel genetic variations in the KRTAP22-2 gene among eight sheep breeds but found no association between these genotypes and wool fibre traits, indicating possible species-specific differences compared to goats.
December 2024 in “Frontiers in Genetics” This review discusses the genetic causes and pathogenesis of Olmsted syndrome, emphasizing the potential for a genotype-phenotype correlation due to TRPV3 mutations, and explores avenues for individualized treatment developments for this condition.
January 2022 in “Journal of Biomedical Research & Environmental Sciences” This study suggests that eNOS and STAT6 gene polymorphisms may increase the risk of developing PCOS in South Indian women.
15 citations
,
January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
17 citations
,
November 2017 in “Asian-Australasian journal of animal sciences” This study found that mutations in certain keratin genes significantly affect wool traits in Chinese Merino sheep, suggesting these genes could be important for sheep breeding to improve wool quality.
May 2025 in “Egyptian Journal of Dermatology and Venerology” This study found that specific SNPs in the CYP19A1 gene were associated with Female Pattern Hair Loss in Egyptian women, with altered CYP19A1 gene expression and higher frequencies of related genotypes observed in patients compared to controls.
October 2017 in “The Indian Journal of Animal Sciences” This study found that prolactin gene polymorphism in Changthangi goats showed no significant association with Cashmere quality traits, indicating the need for further research with larger sample sizes.
January 2024 in “Biomarker Insights” This study found significant associations between PCOS susceptibility and specific genetic variants in the APOA5 and PLIN1 genes among Western Saudi women, identifying novel alleles and genotypes that may influence PCOS risk and related clinical characteristics.
82 citations
,
April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
14 citations
,
February 2018 in “Psychoneuroendocrinology” This study found that male 5α-reductase 2 knockout mice showed deficits in social dominance behaviors and reduced dopamine receptor binding in a brain region related to social ranking.
13 citations
,
September 2019 in “EBioMedicine” This study found that Secretory Phospholipase A2-IIA (sPLA2-IIA) promotes proliferation through JNK/c-Jun signaling, distinctively affecting normal stem cells and cancer cells, suggesting it as a potential target for cancer treatment.
9 citations
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March 2018 in “European journal of dermatology/EJD. European journal of dermatology” This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.
7 citations
,
March 2011 in “Hormone and Metabolic Research” This study found that in PCOS patients, variations in the lipin 1 gene, particularly the intron 1 SNP, may protect against insulin resistance and glucose intolerance, highlighting a potential genetic factor in the disorder's cardiometabolic complications.
1 citations
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October 2025 in “Micromachines” This review highlights the potential of integrating point-of-care testing with allele-specific amplification techniques like AS-PCR, AS-LAMP, and AS-RPA to improve the efficiency, accuracy, and affordability of genotyping single nucleotide polymorphisms associated with human diseases.