78 citations
,
August 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study reports that the same androgen receptor gene mutation within a family can lead to both complete and partial androgen insensitivity syndromes, suggesting that genetic defects alone may not predict clinical phenotype.
28 citations
,
October 2004 in “Differentiation” This study identified a large deletion in the desmoglein 4 gene as the genetic basis of the Iffa Credo "hairless" rat's skin phenotype, linking it to lanceolate hair mutations.
15 citations
,
February 2014 in “PloS one” This study identified two prevalent and one newly proposed founder LIPH mutations in Japanese patients with autosomal recessive woolly hair/hypotrichosis and associated these mutations with different severities of hair loss.
September 2026 in “British Journal of Dermatology” This study identified 11 genes associated with non-syndromic hereditary hypotrichosis in a Chinese cohort and proposed a preliminary framework for phenotype-driven candidate-gene prioritization to aid clinical evaluation.
54 citations
,
May 2001 in “Journal of Investigative Dermatology” This study suggests that increased putrescine levels may disrupt normal hair follicle development in transgenic mice, leading to hair loss and altered skin structure, yet these mice appear more resistant to skin tumorigenesis.
23 citations
,
March 2017 in “JAAD case reports” This study reports a new family with hereditary fibrosing poikiloderma (POIKTMP) and identifies a pancreatic cancer occurrence in a family member, raising questions about FAM111B's role as a potential cancer predisposition gene.
5 citations
,
August 1983 in “PubMed” This study found that isozyme profiles in polyoma virus-induced tumors were consistent and distinctive for each tumor type, except for salivary and mammary tumors which shared a profile.
3 citations
,
March 2024 in “Journal of Dermatological Treatment” Baricitinib can lead to hair regrowth in alopecia areata but may also cause relapses.
June 2026 in “International Journal of Medical Science and Dental Health” In this study, researchers found that women with Type 2 Diabetes Mellitus and hair loss had significantly lower levels of ferritin, zinc, and vitamin D compared to men, and constructed a validated risk score to predict severe nutrient deficiencies in these patients.
April 2019 in “Journal of the Endocrine Society” This study found that androgen-regulated genes in hidradenitis suppurativa skin lesions are strongly linked to innate immunity pathways, indicating a potential connection between androgen signaling and inflammation in this condition.
69 citations
,
January 2005 in “The Journals of Gerontology Series A” This study suggests that short telomeres may produce similar aging-related symptoms across different segmental progeroid syndromes, offering potential insights into normative aging processes.
7 citations
,
March 1993 in “International Journal of Oncology” This study found that the keratin expression in basal cell carcinoma resembles that of the pilosebaceous apparatus, with uniform presence of certain keratins in all cases.
June 2026 in “EP Europace” This study found that minoxidil and finasteride, commonly used for androgenetic alopecia, were associated with different arrhythmia profiles in adverse event reports: minoxidil predominantly with supraventricular arrhythmias and finasteride primarily with ventricular arrhythmias in men.
January 1990 in “Advances in forensic haemogenetics” This study used one-dimensional SDS electrophoresis to examine low sulfur proteins in hair samples from multiple generations within five families, but does not report new results.
162 citations
,
January 2015 in “Trends in Endocrinology and Metabolism” This review discusses how women with PCOS have an increased risk of insulin resistance and cardiometabolic features regardless of body fat, and calls for targeted prevention and management strategies.
98 citations
,
March 2019 in “Frontiers in immunology” This study concluded that heterozygous NFKB2 mutations lead to a distinct and severe form of primary immunodeficiency with early onset, primarily T cell-mediated autoimmunity, and impaired B-cell differentiation.
75 citations
,
September 2007 in “Journal of Heredity” This study found that mutations in the FGF5 gene are the primary genetic factor causing long hair in domestic cats through an autosomal recessive mechanism.
62 citations
,
April 2013 in “Steroids” This review discusses the age-related diagnostic challenges and comorbidities of polycystic ovarian syndrome and provides no new clinical findings; the authors emphasize the role of obesity in insulin resistance among affected women.
50 citations
,
April 2014 in “Nature Communications” This study analyzed skin from 538 knockout mouse mutants and identified 50 with epidermal phenotypes, providing valuable insights into genetic conditions and systemic effects related to skin abnormalities.
50 citations
,
February 2004 in “Genomics” This study identified a missense mutation in the rat Desmoglein 4 gene, causing abnormal hair shaft development in lanceolate hair mutant rats by disrupting a critical calcium binding site.
47 citations
,
July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
40 citations
,
June 2013 in “Scientific Reports” This study found an association between a splice site variant in the KRT71 gene and curly hair in Selkirk Rex cats, identifying a significant locus on chromosome B4.
32 citations
,
January 2012 in “Clinical & Developmental Immunology” In this study, rheumatoid arthritis patients showed no changes in the number of circulating follicular helper T cells, but these cells had increased CD200 expression, implicating them in disease pathogenesis and suggesting CD200/CD200R as a potential therapeutic target.
31 citations
,
January 2014 in “Clinical Endocrinology” This study found no significant differences in metabolic characteristics between different phenotypes of PCOS or between women with PCOS and healthy controls among reproductive-aged Iranian women.
30 citations
,
January 2021 in “Journal of Clinical Immunology” This study describes various clinical phenotypes associated with FOXN1 mutations, finding that affected individuals may develop different severities of immunodeficiency based on their genetic mutations.
13 citations
,
August 2024 in “iScience” This study found that 3D spheroid culture reprogrammed mesenchymal stem cells into a uniform immunosuppressive phenotype, suggesting potential therapeutic applications for inflammatory diseases like psoriasis.
7 citations
,
June 2021 in “Trends in Food Science and Technology” This commentary reviews potential dietary and mineral influences on androgenetic alopecia and suggests considering a diet low in cholesterol and glycaemic index with improved glucose control and magnesium fortification, without new clinical results.
1 citations
,
July 2025 in “BMC Medicine” The authors concluded that establishing and standardizing methods for data collection are crucial to improving PCOS diagnosis and research due to challenges observed in data harmonization across diverse international cohorts.
1 citations
,
January 2022 in “IntechOpen eBooks” This study suggests that while PCOS phenotype does not affect oocyte quality, a combination of hyperandrogenism and chronic anovulation negatively impacts cumulative pregnancy rates in assisted reproduction.
March 2026 in “Journal of Investigative Dermatology”