March 2011 in “Pigment Cell & Melanoma Research” This study found that changes in the expression of the Agouti gene contribute to the pale pigmentation in beach mice, with implications for melanocyte development and localization.
November 2009 in “Medical & surgical dermatology” This study found that haploinsufficiency of SPINK5 can lead to Netherton syndrome when a single null mutation combines with homozygous G1258A polymorphisms, suggesting it acts as a genuine mutation affecting LEKTI function.
January 2021 in “Research Square (Research Square)” This study found that STAT3 directly inhibits the sheep FST gene and cell proliferation, shedding light on the molecular mechanisms of hair follicle development and wool characteristics.
October 2011 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Certain gene variations are significantly linked to hair loss, especially in white people.
475 citations
,
October 2006 in “Proceedings of the National Academy of Sciences” This study suggests that folliculin, mutated in Birt–Hogg–Dubé syndrome, and its partner FNIP1 may play a role in energy and nutrient sensing through the AMPK and mTOR pathways.
45 citations
,
January 2010 in “Journal of Veterinary Medical Science” This study identified a mutation in the keratin 71 gene that causes curly hair in certain rats, advancing our understanding of hair formation.
24 citations
,
June 2012 in “BMC Research Notes” This study outlines the Human Gene Correlation Analysis tool, which classifies human genes by coexpression levels and identifies overrepresented annotation terms in correlated gene groups, with no new clinical results reported.
June 2025 in “Microorganisms” In this study, researchers observed significant differences in hair follicle microbiome diversity and microbial composition between hair loss and healthy groups, uncovering specific patterns and functional changes associated with female pattern hair loss, which may aid future targeted approaches for androgenetic alopecia.
May 2023 in “Pharmaceuticals” In this in silico study, researchers analyzed nonsynonymous SNPs in the LIPH gene linked to hypotrichosis and identified three potentially harmful variants (W108R, C246S, and H248N) out of 215 total, using sequence- and architecture-based bioinformatics techniques to differentiate between harmful and benign SNPs.
9 citations
,
July 2011 in “Scientific Reports” This study suggests that human evolution involved accelerated changes in the HR gene, affecting its role in mediating postnatal hair cycling.
195 citations
,
June 2005 in “American Journal of Human Genetics” Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
87 citations
,
July 2009 in “Journal of Cell Science” The researchers found that corneodesmosin is crucial for maintaining skin barrier integrity and hair follicle architecture in mice, with its deletion leading to severe skin and hair abnormalities.
52 citations
,
October 1999 in “Developmental Dynamics” This study found that the hairless gene in mice has a more extensive role in development than previously thought, as indicated by its expression in various tissues and associated abnormalities in hr/hr mutants.
51 citations
,
November 2011 in “British Journal of Dermatology” This study suggests that the HDAC9 gene is a third susceptibility gene for male-pattern baldness, with significant associations found in both German and Australian samples.
47 citations
,
December 2011 in “Experimental Dermatology” This study suggests that the neuropeptide CGRP may protect against, but not restore, IFNγ-induced collapse of hair follicle immune privilege in alopecia areata.
45 citations
,
March 1997 in “Journal of Investigative Dermatology” TCDD changes skin gene expression and may harm skin health.
44 citations
,
December 2005 in “Journal of Investigative Dermatology” This study found significant associations between certain MICA variants and haplotypes with alopecia areata, suggesting MICA as a potential candidate gene linked to the disease's susceptibility and severity.
37 citations
,
August 1999 in “Journal of Investigative Dermatology” This study identified a nonsense mutation in the zinc-finger domain of the hairless gene associated with congenital atrichia in a Japanese family, indicating a potential genetic cause for this rare form of alopecia.
28 citations
,
January 2011 in “Hearing Research” This review covers recent developments in inner ear therapeutics and gene delivery methods but reports no new clinical results; it highlights potential strategies for treating hearing and balance disorders.
26 citations
,
September 2009 in “Clinical genetics” This study identified four novel and one recurrent mutation in the AIRE gene among Arab families with APS1, suggesting these contribute to the disorder.
24 citations
,
November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.
20 citations
,
August 2003 in “Clinical and Experimental Dermatology” In this study, a novel E583V missense mutation in the hairless gene was identified in an Italian family with atrichia with papular lesions, reinforcing the significance of zinc-finger and LXXLL domains in this condition.
16 citations
,
July 2021 in “American Journal of Medical Genetics Part A” This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
13 citations
,
November 2009 in “Journal of Dermatological Science” This article discusses various dermatological studies cited by previous authors and reports no new clinical results.
10 citations
,
January 2010 in “Veterinary pathology” This study found that a newly identified mutation in the hairless gene in mice led to decreased Hr mRNA levels and changes in gene expression related to hair follicle development.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.
6 citations
,
January 2024 in “Journal of Cancer” In this study, researchers developed a prognostic model using 16 genes to predict lung adenocarcinoma prognosis, showing good predictive accuracy and potential clinical utility in guiding treatment decisions based on hypoxia and mitochondrial-associated gene expression.
6 citations
,
January 2004 in “DNA Research” This study identified a nonsense mutation in the Sgkl gene as the cause of defective hair growth in a mutant mouse strain, implicating the SGKL signaling pathway in hair development.
5 citations
,
February 2022 in “Molecular genetics & genomic medicine” This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.
3 citations
,
December 2021 in “Frontiers in endocrinology” In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.