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.
1 citations
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September 2024 in “BMC Ophthalmology” This study found significantly elevated central corneal thickness and intraocular pressure in patients with polycystic ovary syndrome, suggesting it should be considered in evaluating anterior segment diseases and glaucoma in women.
1 citations
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January 2024 in “Pediatric Endocrinology Diabetes and Metabolism” In this retrospective study of eight Saudi children with hereditary vitamin D resistant rickets, researchers observed that adjunctive cinacalcet appeared safe and showed initial promise in improving serum PTH levels, though further investigation is needed to confirm its efficacy.
April 2026 in “Biomedical Research and Therapy” This study found that certain genetic variants, specifically CYB5R1 and IL1A, may be linked to different types of acne scarring, with CYB5R1 associated with atrophic scarring and IL1A with fibrotic scarring, indicating a potential polygenic nature of acne scarring.
January 2026 in “Communications Biology” This study constructed a single-cell atlas of hair follicle cells from yaks and taurine cattle, revealing that differences in WNT signaling within dermal papilla cells may be key to the yak's adaptation to cold environments on the Qinghai-Tibet Plateau.
November 2025 in “Journal of Contemporary Medicine” This study observed that women with PCOS exhibited higher levels of triglycerides, fasting insulin, HOMA-IR, total testosterone, DHEAS, and LH/FSH ratio, and lower HDL cholesterol compared to healthy controls, with these markers varying across different PCOS phenotypes.
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.
January 2023 in “International journal of medical science and health research” This study found that anovulatory PCOS patients were younger, had longer menstrual cycles, and higher systolic blood pressures compared to ovulatory patients.
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.
December 2021 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” Men can have genetic risks for PCOS-related traits like obesity and diabetes.
15 citations
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April 2022 in “Ginekologia Polska” Higher thyroid hormone levels may be linked to certain types of polycystic ovary syndrome.
6 citations
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May 2013 in “PloS one” This study found that the Foxn1(-/-) nude phenotype significantly influences epithelial progeny in skin, with notable changes in stem cell niches not achievable in other models.
6 citations
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August 2006 in “Journal of Cutaneous Pathology” This case report describes two brothers with an unusual, possibly treatment-resistant inflammatory variant of androgenic alopecia, featuring follicular isthmic lymphocytic inflammation and diffuse central scalp hair loss.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
March 2024 in “International journal of life-sciences scientific research/SSR Institute of International Journal of Life Sciences” This systematic review reported that PCOS is marked by increased androgens, hirsutism, and an elevated LH/FSH ratio, with metformin showing a therapeutic effect on menstrual cycles, emphasizing the need for individualized treatment strategies.
February 2021 in “PARIPEX INDIAN JOURNAL OF RESEARCH” This study found that women with PCOS had a higher prevalence of hypothyroidism compared to those without PCOS, especially among the obese PCOS subgroup.
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.
15 citations
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May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
November 2022 in “Van Sağlık Bilimleri Dergisi” This study found no association between W locus allele variations and phenotypic traits like eye color, head spotting, and fur length in Turkish Van cats, suggesting other genetic factors should be explored.
60 citations
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August 2008 in “Human molecular genetics online/Human molecular genetics” This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
42 citations
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December 2016 in “Cell Death & Differentiation” This study found that transient mtDNA double strand breaks in mice accelerated aging in certain tissues through increased reactive oxygen species, independent of p21/p53 pathway mediation.
13 citations
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March 2020 in “Genes” This study found that FGF5-/- rabbits exhibited a significant long hair phenotype by prolonging the anagen phase, suggesting FGF5 acts as a negative regulator of hair growth.
7 citations
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March 2022 in “Scientific reports” In this study, researchers found that pigs with genetically disrupted ANTXR1 were resistant to Senecavirus A infection, showing no clinical symptoms, and provided a model for human GAPO syndrome, while confirming ANTXR1 as a receptor for the virus.
2 citations
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December 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, overexpression of miR-29 in mice led to aging-related phenotypes and early lethality, demonstrating its significant role in driving aging processes.
2 citations
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June 2017 in “Journal of The American Academy of Dermatology” This article discusses the uncertainty regarding distinct skin findings and cardiometabolic profiles among PCOS subtypes and reports no new clinical data.
This study identified new geometric and mechanical parameters for curly and kinky/coily hair, which may inform more effective personal care products tailored to these hair types.
This study used quantitative methods to identify new geometric and mechanical parameters of curly and kinky/coily hair, aiming to improve classification and develop better personal care products for these hair types.
January 2016 in “Journal of SAFOG” This study observed that androgenic hormone levels were higher in high school girls with PCOS phenotypes accompanied by menstrual disorders, particularly oligomenorrhea.
87 citations
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January 2017 in “PLoS Genetics” This study found that simultaneously inhibiting both KLK5 and KLK7 proteases completely rescued skin barrier defects in a mouse model of Netherton syndrome, suggesting both should be therapeutic targets.
688 citations
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June 2007 in “Cell Stem Cell” This study found that deleting the ATR gene in adult mice led to rapid onset of age-related traits such as hair graying and osteoporosis through reduced regenerative capacity.