22 citations
,
September 2014 in “JAMA dermatology” This study identified major criteria including ectodermal malformations for diagnosing ichthyosis with confetti, and revealed significant genetic variation in the disease locus within the general population.
3 citations
,
October 2011 in “JAT. Journal of applied toxicology/Journal of applied toxicology” This study found that finasteride was nongenotoxic in Drosophila, while doxazosin mesylate and saw palmetto induced homologous recombination, indicating potential genotoxic actions under the test conditions.
1 citations
,
January 2019 in “Open Journal of Internal Medicine” This case report describes a 19-year-old patient with systemic lupus and a composite heterozygosis SC with thalassemic component, highlighting the diagnostic challenge when symptoms of both conditions occur simultaneously.
2 citations
,
March 2024 in “International Journal of experimental research and review” This study found that more than 14% of idiopathic recurrent early pregnancy loss cases were associated with chromosomal heteromorphisms, predominantly 9qh+, suggesting a genetic component in these unexplained cases.
1 citations
,
February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
62 citations
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April 2008 in “Neurobiology of aging” This study identified a new genetic locus, ahl4, on distal Chromosome 10 that contributes to the early-onset, severe hearing loss in A/J mice compared to B6 mice.
14 citations
,
July 2010 in “British Journal of Dermatology” This report discusses the possibility that estrogens might play a greater role than androgens in female pattern hair loss, without presenting new research findings.
14 citations
,
August 2009 in “Cancer epidemiology” This study found that AHCC significantly reduced alopecia caused by Ara-C in neonatal rats and improved liver function affected by 6-MP and MTX in mice.
3 citations
,
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified loss of function variants in the HR gene as likely causes of the distinct roaning hair coat seen in lykoi cats.
2 citations
,
December 2020 in “Endocrinology, diabetes & metabolism case reports” This case study highlights the complexity of managing autoimmune polyglandular syndrome type 1, emphasizing the need for thorough clinical history, high suspicion for early diagnosis, and continuous long-term follow-up.
1540 citations
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October 2008 in “Fertility and Sterility” This review discusses the definition of polycystic ovary syndrome proposed by the AE-PCOS Society Task Force, emphasizing hyperandrogenism, ovarian dysfunction, and excluding related disorders, while noting potential variations needing more research.
100 citations
,
May 2011 in “Journal of Pediatric and Adolescent Gynecology” This review covers the pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency and reports no new findings.
72 citations
,
November 2012 in “PloS one” This study found that dysregulation of the folliculin-p0071 interaction may lead to changes in cell adhesion and signaling, contributing to conditions like emphysema and renal cell carcinoma.
58 citations
,
December 2018 in “Nature Communications” This study found that male pattern baldness in European males is strongly heritable and associated with genetic markers linked to earlier puberty, bone density, and pancreatic function.
47 citations
,
December 2000 in “Archives of Dermatological Research” This study found that women with androgenetic alopecia showed higher levels of certain hormones and lower levels of sex hormone-binding globulin than healthy controls, potentially linking these factors to alopecia severity.
30 citations
,
June 2019 in “Frontiers in Endocrinology” This article discusses the challenges in diagnosing non-classical congenital adrenal hyperplasia and emphasizes personalized treatment approaches, reporting no new clinical results.
24 citations
,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
17 citations
,
June 2017 in “Gene” This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.
5 citations
,
October 2018 in “Dermatologic therapy” This case report describes the first recorded instance of congenital triangular alopecia in the mid-frontal scalp region, challenging the assumption that it is restricted to the frontotemporal area.
4 citations
,
March 2022 in “Frontiers in pharmacology” This article reviews the botanical characteristics, traditional and modern medicinal uses, and market potential of Prunus mira, but reports no new clinical findings.
4 citations
,
May 2006 in “médecine/sciences” This study suggests that the hairless gene encodes a nuclear factor important for hair follicle integrity, and its absence leads to hair follicle loss and defects in tissue development.
1 citations
,
August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study reports that a novel gain-of-function mutation in TMEM173, combined with polymorphisms in TMEM173 and IFIH1, results in a distinct clinical phenotype with features of SAVI, including alopecia and photosensitivity.
January 2026 in “Journal of Clinical and Investigative Dermatology” This case report describes a father with HOXC13-associated pure hair-nail ectodermal dysplasia, presenting with severe nail dystrophy affecting all digits and notable hypotrichosis or complete alopecia.
May 2025 in “Ecology and Evolution” This study reports the draft genome sequence of the endangered Indus River dolphin and suggests potential genetic adaptations to freshwater environments, including specialized skin features and immune adaptations, while also highlighting historical and human-induced factors contributing to its low genetic diversity.
January 2023 in “Revista Paulista de Pediatria” This case study reported the first diagnosis of IFAP syndrome in Brazil with molecular investigation, identifying a rare MBTPS2 gene variant and expanding the known mutational spectrum associated with the condition.
September 2022 in “Curēus” This case report describes a 61-year-old female with hyperandrogenic symptoms, where an ovarian hemangioma with stromal luteinization was identified and surgically removed, resulting in improved symptoms.
January 2021 in “International journal of medical science and health research” This case report highlights a rare incidence of systemic lupus erythematosus in a patient with sickle cell trait, emphasizing the need for awareness of autoimmune disease associations beyond sickle cell disease.
January 1986 in “Journal of Steroid Biochemistry” Women with severe acne, hirsutism, and androgenic alopecia often have higher levels of certain androgens, but the specific pattern can't be predicted just by looking at symptoms.
11 citations
,
July 2014 in “Gene” This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.
9 citations
,
October 2008 in “Mutation research” This article discusses the genomic and postgenomic changes in chronic degenerative diseases and cardiovascular and skin disease contexts, highlighting potential modulation through diet and pharmacological interventions without presenting new experimental results.