17 citations
,
December 2001 in “Journal of Investigative Dermatology” This study found that osteopontin mRNA is abundantly expressed in dermal papilla cells during the catagen phase of hair growth in rats, suggesting a role in this phase.
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.
16 citations
,
May 2000 in “Endocrinology” This study identified a new gene, mrp4, in mice, which suggests it may have a unique role in the growth and development of hair follicles in the ears and tails.
16 citations
,
April 1978 in “Genetics Research” This study found that asebic mice exhibit abnormal sebaceous gland differentiation and insufficient sebum production due to defective regulation of cell processes, despite possessing normally developing sebaceous glands initially.
15 citations
,
January 2010 in “Reproduction, Fertility and Development” This study found that Han Chinese women carrying the rs6152A allele had a significantly higher risk of developing polycystic ovary syndrome compared to those with the rs6152GG genotype.
15 citations
,
April 2002 in “British Journal of Dermatology” This study found no strong evidence that the human hairless gene is significantly involved in the development of androgenetic alopecia, though a minor role cannot be completely ruled out.
14 citations
,
December 2016 in “Sexual Medicine” This study identified differences in adverse symptoms among patients with post-finasteride syndrome based on short and long androgen receptor gene polymorphisms.
13 citations
,
January 2018 in “Yonsei Medical Journal” This study reports the first case of Olmsted syndrome in a Korean patient, identifying a novel TRPV3 gene mutation, p.Gly568Val, associated with the condition.
12 citations
,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.
12 citations
,
August 1984 in “Genetics Research” In this study, researchers found that the naked (N) gene in mice indirectly affects the synthesis of structural proteins in mouse hair, resulting in reduced high tyrosine protein content and unusual amino acid compositions.
11 citations
,
January 2018 in “Acta dermato-venereologica” In this study, researchers identified gremilin-2 as a highly specific gene to the dermal sheath cup, suggesting it plays a key role in maintaining its properties.
11 citations
,
October 2014 in “Gene” In this study, researchers characterized the FGF5 gene in Chinese Merino sheep, identified a new mRNA splicing variant, FGF5S, and noted its restricted expression in the brain, spleen, and skin.
11 citations
,
March 2014 in “Journal of The European Academy of Dermatology and Venereology” In this study, researchers found that androgen receptor gene polymorphism is associated with higher androgenetic alopecia grades and PSA levels in men with benign prostatic hyperplasia, but not with prostate cancer.
11 citations
,
December 2013 in “International Journal of Dermatology” This study found that variations in the IL16 gene, specifically SNPs rs17875491 and rs11073001, may be associated with increased risk and phenotype expression of alopecia areata in the Korean population.
11 citations
,
February 2011 in “The Journal of Dermatology” This study observed four consanguineous families with congenital atrichia with papular lesions and identified three novel mutations in the hairless gene, which may contribute to the disorder.
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
,
August 2024 in “Tissue Engineering and Regenerative Medicine” In this study, researchers suggest that strategic early intervention during fetal wound healing could lead to significantly improved long-term skin regeneration outcomes.
9 citations
,
October 2022 in “Journal of Molecular Neuroscience” This study reports a novel LSS gene mutation in an Egyptian family with alopecia intellectual disability syndrome 4, expanding the known clinical and genetic features of the condition.
9 citations
,
December 2018 in “Journal of Natural Fibers” This study found that K33A was significantly upregulated in lustrous Magra wool follicles, while other keratin and KAP genes showed downregulation, impacting wool's physical properties like luster.
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.
9 citations
,
September 2015 in “Reproductive Biomedicine Online” This study suggests that longer GGN repeat polymorphisms in the androgen receptor gene are associated with polycystic ovary syndrome in women.
9 citations
,
August 2013 in “Archives of Dermatological Research” This study concluded that the expression of clock genes, specifically BMAL1, in hair follicles is linked to circadian rhythm, and BMAL1 regulates hair growth.
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.
9 citations
,
March 2009 in “Psychoneuroendocrinology” This study found that variations in the androgen receptor gene influenced memory function in women, with GGN repeat polymorphisms significantly affecting logical memory performance only in females.
9 citations
,
June 2000 in “Journal of The American Academy of Dermatology” This study reported that heterozygous carriers of a mutation in the human hairless gene did not differ from healthy homozygotes in the pattern of androgenetic alopecia.
8 citations
,
July 2015 in “International Journal of Dermatology” This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.
7 citations
,
July 2024 in “Animals” In this study, the researchers observed that higher expression of the Sonic hedgehog gene in cashmere goats' hair follicle cycles is associated with increased cell proliferation and reduced apoptosis, suggesting its role in enhancing cashmere quality.
7 citations
,
May 2019 in “Journal of the Formosan Medical Association” This study found that overweight women with polycystic ovary syndrome carrying the HSD3B1 1245C allele had an increased presence of female pattern hair loss compared to those with the wild-type genotype.
7 citations
,
April 2019 in “Animal biotechnology” This study observed that POMP is strongly expressed in the root sheath hair follicles of Liaoning Cashmere goats and its expression can be regulated by certain factors, which may influence cashmere growth.
7 citations
,
January 2018 in “Neurodegenerative Diseases” This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.