4 citations
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October 2003 in “Annales de Génétique” This study identified a mutation in the KRTHB6 gene in two monilethrix families of Indian origin, linking specific genetic variations to different severities of hair defects within the families.
2 citations
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April 2025 in “Small Ruminant Research” This study evaluated genetic diversity and morphological trait-associated genes in 897 animals from 14 African sheep breeds, finding the lowest genomic heterozygosity in Zulu sheep and the highest in Merino, with genetic analysis revealing associations between specific morphological traits and certain genes.
1 citations
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April 2022 in “AACE clinical case reports” This case report describes a 36-year-old Pakistani phenotypic female diagnosed with 46,XY 5-alpha-reductase deficiency, highlighting that such disorders of sexual development can manifest with symptoms like obesity, hirsutism, and amenorrhea later in life due to unique circumstances.
1 citations
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January 2017 in “Evolutionary studies” This chapter discusses genetic polymorphisms related to phenotypes that differentiate between populations and reports no new results; it highlights the role of DNA technology in understanding human adaptation history.
January 2025 in “Iraqi Journal of Science” This study found that variations in the genes PDCD4, miR-21, and miR-449b may significantly influence breast cancer progression, with higher PDCD4 serum levels linked to increased breastfeeding.
April 2023 in “Digital Library of Theses and Dissertations (Universidade de São Paulo)” This study concluded that mesenchymal stem cells from adipose tissue harvested using laser-assisted liposuction with selective photo-stimulation are as effective and low-risk for cell therapy as those obtained through conventional liposuction, based on their differentiation potential, cellular proliferation, and cytokine expression.
December 2022 in “Nepal Journal of Obstetrics and Gynaecology” This study found that anovulatory PCOS was the most common phenotypic variant among women with menstrual irregularities seeking treatment, and no cases of obese PCOS were observed.
September 2016 in “Journal of dermatological science” This study suggested that differences in hair follicle development, indicated by the frequency of underdeveloped hairs, significantly contribute to the variation in hair loss severity among Japanese individuals with the LIPH c.736T>A mutation.
April 2015 in “Dentistry 3000” This article explores the causes and associated syndromes of premature hair hypopigmentation, emphasizing a need for better understanding to guide individual patient education and treatment.
March 2024 in “Research Square (Research Square)” This study found that a combined genotypic and phenotypic reanalysis increased molecular diagnostic accuracy from 9% to 26% in a cohort of unresolved monogenic diabetes cases, identifying five previously overlooked genetic defects.
130 citations
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January 2000 in “Nature biotechnology”
52 citations
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October 1999 in “Developmental Dynamics” This study found that the hairless gene in mice has a more extensive role in development than previously thought, as indicated by its expression in various tissues and associated abnormalities in hr/hr mutants.
24 citations
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April 2021 in “BMC women's health” This study found that women with PCOS and high BMI exhibited significantly increased hair growth compared to non-PCOS women, suggesting an additive effect of body weight on this phenotype in PCOS.
5 citations
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January 2020 in “Wiadomości lekarskie (Warsaw Poland)” This study found that patients with GERD and UCTD have significantly more frequent phenotypic and visceral markers than those with GERD alone, which should inform early diagnostic and treatment strategies.
5 citations
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October 2017 in “Cellular Reprogramming” This research found that inhibiting HSP90 in a murine model increased cellular plasticity, suggesting a potential role for HSP90 in cancer progression through enhanced adaptability to stress.
3 citations
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June 2016 in “Dermatology Reports” This study concluded that the digit-length ratio (2D:4D) does not predict androgenic alopecia development, suggesting prenatal androgen exposure does not predispose men to this condition.
2 citations
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May 2020 in “Journal of the American Academy of Dermatology” Hair shaft changes may be linked to CCCA, but their role is unclear.
2 citations
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April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This article discusses the MendelVar webserver, which integrates Mendelian disease data with GWAS findings to prioritize candidate genes for complex traits and reports no new experimental results.
March 2005 in “Journal of the American Academy of Dermatology” Higher levels of IL-1a and IL-1RA were found in severe alopecia areata cases.
January 2021 in “Medicine Science | International Medical Journal” This study found that men with early androgenetic alopecia had significantly lower total antioxidant capacity compared to healthy age-matched controls.
340 citations
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September 2014 in “PLOS Genetics” This study found that while genetic ancestry affects physical appearance traits in Latin American populations, it accounts for only a modest portion of the observed variation.
1 citations
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December 2024 in “Journal of Orthopaedic Research®” In this study, researchers developed a novel method combining in silico and in vitro techniques to discover Aromoline, a potential osteoarthritis treatment that increases type II collagen expression in chondrocytes by targeting the dopamine receptor D4.
August 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study found that excessive consumption of nutmeg, ginger, cloves, and mixed spices led to significant liver damage and other health issues in laboratory mice.
August 2026 in “Zenodo (CERN European Organization for Nuclear Research)” In this study, excessive consumption of nutmeg, ginger, cloves, and mixed spices caused significant liver damage and other harmful effects in mice, leading to severe health issues and mortality.
October 2025 in “Journal of the Endocrine Society” This report highlights that Klinefelter syndrome is often underdiagnosed due to phenotypic variability and emphasizes the importance of thorough physical examinations to improve diagnostic timing.
August 2024 in “Veterinary Dermatology” This study reported that topical ω‐0‐acylceramide improved skin barrier function in Jack Russell Terriers with TGM1-deficient autosomal recessive congenital ichthyosis, normalizing skin pH and reducing transepidermal water loss.
February 2024 in “Acta dermato-venereologica” This study reports that folliculitis decalvans and lichen planopilaris phenotypic spectrum is an underdiagnosed form of cicatricial alopecia, potentially treatable with anti-inflammatory drugs used for lichen planopilaris.
30 citations
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November 2019 in “Genetics selection evolution” This study found that in Chinese goat breeds, specific genetic variations, particularly in Tibetan Cashmere goats, are associated with traits like hair growth and adaptation to high-altitude environments.
1 citations
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June 2021 in “Journal of gynecology and womens health” This study found that the prevalence of polycystic ovarian syndrome among women of reproductive age in urban and rural areas of Hyderabad, Telangana, is between 6.5% and 6.8%.
47 citations
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June 2016 in “JAMA Dermatology” This study suggests men with early androgenetic alopecia might have hormonal profiles similar to women with polycystic ovarian syndrome, potentially indicating risk for related health complications.