January 2019 in “Global Dermatology” This review discusses the genetic disorder, monilethrix, characterized by fragile, brittle hair and its inheritance patterns, and reports no new clinical results.
19 citations
,
November 1993 in “Mammalian Genome” This study reports that transgene insertion in homozygous transgenic mice causes irreversible hair loss and impaired immune function, linked to interruption of the hairless locus on Chromosome 14.
1 citations
,
November 2024 in “Diabetes Metabolic Syndrome and Obesity” In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.
November 2025 in “International Journal of Clinical Obstetrics and Gynaecology” This study found evidence for a genetic basis of polycystic ovary syndrome, indicating an autosomal dominant pattern of inheritance among first-degree relatives.
20 citations
,
December 2013 in “Clinical and Experimental Dermatology” This study found that among Korean men with AGA, drinking and smoking were associated with greater hair loss severity, while family history was linked to more severe hair loss and earlier onset.
5 citations
,
January 2022 in “Asian Pacific Journal of Cancer Prevention” This study found that the rs2228570 polymorphism of the VDR gene was associated with an increased risk of melanoma, while the rs731236 polymorphism was linked to a protective effect against the disease in Colombian patients.
March 2018 in “Nepal journal of dermatology, venereology & leprology” This study observed no association between androgenetic alopecia and benign prostatic hyperplasia in men aged 20 and older, although a positive family history was linked to early onset of hair loss.
70 citations
,
January 2014 in “International review of cell and molecular biology” This review discusses the role of keratins in maintaining epidermal structure and function and reports no new results; the authors emphasize the lack of rational therapies for skin disorders linked to keratin mutations.
31 citations
,
April 2016 in “Nature communications” This study found that in adult mouse skin, reduced levels of histone H3 K4/K9/K27me3 during hair follicle stem cell quiescence are linked to proper tissue homeostasis.
19 citations
,
April 2014 in “Hormones” Hormones and genetics play key roles in male and female baldness, which can affect mental health and may be linked to other health issues.
17 citations
,
October 2017 in “Journal of Cutaneous Medicine and Surgery” This review discusses the various treatment options for frontal fibrosing alopecia but reports no definitive results, as no treatment has proven effective in halting hairline recession or promoting hair growth.
In this thesis, researchers explored ways to enhance the management of myotonic dystrophy type 1 by investigating the genetic inheritance patterns, especially small-sized repeat expansions, and assessing cardiac care, energy expenditure, and body composition in affected individuals.
17 citations
,
October 2005 in “Journal of Biological Chemistry” This study found that Hirosaki hairless rats experience transient activation of STAT5A in the mammary glands during early lactation, involving O-GlcNAc modification rather than Tyr-phosphorylation.
50 citations
,
February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
1 citations
,
July 2024 in “Indian Journal of Case Reports” This article presents a case study of a 16-year-old male with GAPO syndrome, characterized by growth retardation, alopecia, pseudoanodontia, and optic atrophy, who sought dental treatment for missing teeth.
May 2025 in “Frontiers in Genetics” This study reported discovering a novel missense variant in a case of autosomal recessive woolly hair in a 31-year-old Chinese woman, which significantly reduced secretion of the encoded protein, likely leading to disease by impairing its hydrolytic function.
January 2024 in “Oxford medical case reports” This case report details the first observed instance of congenital erythropoietic porphyria in Armenia, where standard treatments did not stop symptom progression in a 22-year-old man, prompting consideration of stem cell transplant.
November 2025 in “Skin Health and Disease” This case series describes eight instances of autosomal recessive woolly hair in an Indian population over the past 12 years, detailing their clinical presentation, hair traits, and treatment response.
2 citations
,
July 2021 in “Genes” This study identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.
4 citations
,
January 2009 in “PubMed” In this study, researchers identified an autosomal dominant mutation (E402K) in exon 7 of the KRT86 gene as a cause of Monilethrix in a large family from Turkey.
203 citations
,
November 1984 in “Journal of the American Academy of Dermatology” This study presents evidence suggesting that androgenetic alopecia is most likely inherited through a polygenic model, challenging the traditional view that it is caused by a simple Mendelian autosomal dominant gene.
November 1983 in “American Biology Teacher” This article revisits the genetics of pattern baldness but reports no new clinical findings.
January 2011 in “Elsevier eBooks” Alopecia in animals can be hereditary, congenital, or acquired, with treatments and outcomes varying widely.
This case study suggests that obstructive sleep apnea syndrome may be hereditary in patients with connective tissue disorders due to a variant in the COL1A2 gene.
July 2024 in “Journal of Rare Diseases” This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.
46 citations
,
December 2003 in “Advances in neonatal care” This article reviews fetal scalp hair formation and related disorders but reports no new research results.
17 citations
,
November 2012 in “Journal of Investigative Dermatology” This paper reviews the genetic aspects of hair disorders and suggests that understanding these genes could advance treatment and diagnosis; it reports no new experimental findings.
30 citations
,
September 2017 in “Clinics in Dermatology” This article reviews the clinical and histological features of acanthosis nigricans and its associations with insulin resistance and other conditions, but highlights the need for more research on its classification, severity assessment, and treatment options.
19 citations
,
December 2015 in “European Journal of Human Genetics” This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.