41 citations
,
November 2011 in “The Journal of Dermatology” This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.
15 citations
,
February 2014 in “BMC Research Notes” This study found that male androgenic alopecia patients using the X5 hair laser device showed a statistically significant increase in hair growth over a 26-week period.
7 citations
,
March 2015 in “British Journal of Dermatology” Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.
7 citations
,
May 2010 in “Journal of Cutaneous Pathology” This study identified a novel locus for hereditary hypotrichosis simplex on chromosome 13q12.12~12.3 in a four-generation Chinese family.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
1 citations
,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
December 2025 in “Frontiers in Medicine” This review details the global mutation patterns of genes associated with autosomal recessive woolly hair/hypotrichosis and highlights potential, yet unproven, treatments like minoxidil and regenerative therapies, reporting no new clinical results.
August 2023 in “Acta Scientific Paediatrics” This case study reported a neonate of Indian descent with localized hypotrichosis type 1 due to a likely pathogenic deletion in the DSG4 gene, marking the first such case from India.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
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.
12 citations
,
July 2016 in “British journal of dermatology/British journal of dermatology, Supplement” This study observed phenotypic diversity in hair loss among Japanese individuals homozygous for the LIPH c.736T>A mutation and suggests that differences in hair thickness may contribute to varying severities.
July 2009 in “Medical & surgical dermatology” Low-dose acitretin helps nail psoriasis, stem cells may treat scarring alopecia, Chinese men have lower baldness rates, lateral foldplasty is good for ingrown toenails, hair diameter helps diagnose female baldness, childhood trauma linked to alopecia areata, certain hair-weaving leads to scalp conditions in African American women, and new methods for hair research and understanding hair and sweat gland development were introduced.
78 citations
,
May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
39 citations
,
December 2012 in “The American Journal of Human Genetics” This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.
11 citations
,
April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
40 citations
,
December 2010 in “Human Genetics” 34 citations
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July 2020 in “American journal of human genetics” This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.
9 citations
,
July 2016 in “Genes” This study identified specific genetic variants as the cause of visual impairment and non-syndromic alopecia in two brothers, reinforcing the link between PDE6H variants and achromatopsia and LPAR6 variants and alopecia.
35 citations
,
January 2011 in “Journal of Biological Chemistry” This study found that overexpression of sPLA2-X in mice was associated with alopecia and hair follicle abnormalities, highlighting its potential role in hair follicle homeostasis.
97 citations
,
March 2010 in “The American Journal of Human Genetics” A mutation in the KRT74 gene causes tightly curled hair.
50 citations
,
February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
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.
5 citations
,
June 2014 in “Der Hautarzt” This review discusses genetic causes and classification of rare, monogenic forms of alopecia and highlights the role of molecular genetic research in understanding hair loss mechanisms but reports no new clinical results.
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.
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.
In this study, researchers created a mouse model using CRISPR/Cas9 technology to investigate hypotrichosis simplex and woolly hair, finding that Krt71-knockout mice exhibited curly hair and developed complete hair shedding without immune deficiencies, mimicking conditions seen in humans and potentially aiding future hair disorder research.
June 2023 in “Frontiers in Medicine” This study identified core genes and pathways involved in androgenetic alopecia, finding that genes related to hair follicle development are down-regulated, while those linked to immune responses are up-regulated, highlighting potential therapeutic targets.
26 citations
,
July 2019 in “Dermatology and Therapy” This article discusses genetic hair disorders in children, outlining diagnostic approaches and highlighting the significance of distinguishing isolated hair defects from those associated with syndromes, but it reports no new clinical results.
May 2024 in “International journal of medicine and psychology.” This study found that elderly patients with acute coronary syndrome had higher PRU rates, and ticagrelor showed greater antiplatelet efficacy compared to clopidogrel in this population.