95 citations
,
March 2009 in “Differentiation” Gene expression in wool follicles changes with growth cycles, offering insights into wool and human hair growth.
94 citations
,
July 2020 in “European Journal of Human Genetics” This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.
94 citations
,
April 2018 in “Nature Genetics” This study identified more than 100 genetic loci associated with hair color variation in Europeans, explaining a significant portion of the trait's heritability and advancing understanding of hair pigmentation.
94 citations
,
April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” This study describes the first case of female pseudohermaphroditism due to a novel homozygous glucocorticoid receptor gene mutation, indicating possible pre- and postnatal virilization in affected females.
93 citations
,
May 1990 in “The EMBO Journal” Mice with extra sheep genes had hair that fell out and regrew in cycles.
92 citations
,
December 2005 in “The Journal of clinical investigation/The journal of clinical investigation” This study reports that human hair follicle stem cells express different surface markers than mouse stem cells, facilitating their isolation and potentially aiding in the development of cell-based skin treatments.
91 citations
,
May 2020 in “Monaldi Archives for Chest Disease” This narrative review explores gender differences in the epidemiology, risk factors, and effects of COVID-19, emphasizing the need for further analysis using comprehensive gender indicators to shape effective public health strategies and policies.
91 citations
,
May 2005 in “The Journal of Clinical Endocrinology & Metabolism” In this study, a novel mutation in the glucocorticoid receptor gene was identified in a young woman, impairing glucocorticoid signaling and leading to generalized glucocorticoid resistance.
87 citations
,
March 2011 in “Australasian Journal of Dermatology” This review explores the current understanding of genetic and hormonal influences on male androgenetic alopecia and female pattern hair loss, providing guidance for clinicians but reports no new results.
86 citations
,
March 1993 in “Toxicology and Applied Pharmacology” Finasteride affects male rat genitalia development, causing abnormalities during specific pregnancy days.
85 citations
,
June 2015 in “Scientific Reports” This study applied semantic text-mining to identify phenotypes linked to over 6,000 diseases, demonstrating that these phenotypes can accurately identify known disease-associated genes, creating a human disease network based on phenotypic similarity.
84 citations
,
January 1990 in “Journal of The American Academy of Dermatology” This study reported successful repigmentation without scarring in patients with localized and segmental vitiligo after epidermal grafting, but the Koebner phenomenon hindered similar results in some with generalized vitiligo.
81 citations
,
January 2011 in “Allergology International” Among Japanese patients with generalized vitiligo, this study found a genetic susceptibility to autoimmune diseases, particularly autoimmune thyroid disease, within families.
79 citations
,
October 1998 in “Genomics” This study found that the mK6alpha and mK6beta genes in mice are regulated differently at the mRNA level, with implications for understanding K6 gene evolution and function in mammals.
78 citations
,
August 2012 in “Human molecular genetics online/Human molecular genetics” This study found that three genetic loci, including the newly identified JMJD1C, are associated with circulating testosterone and dihydrotestosterone levels, explaining a small portion of their variance in European men.
77 citations
,
April 2009 in “British Journal of Dermatology” In this study, genetic variation in the CYP19A1 gene, particularly the common rs4646 C allele, was associated with an increased risk of female pattern hair loss, especially in women under 40.
77 citations
,
June 2007 in “PLoS ONE” This study identified changes in transcription factor gene expression across various signaling pathways during inner ear hair cell regeneration in birds, revealing patterns and potential new pathways for future investigation.
77 citations
,
April 2005 in “Journal of Investigative Dermatology” Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
77 citations
,
April 2004 in “Gene expression patterns” This study observed specific expression patterns of three zebrafish estrogen receptor genes during development, highlighting robust co-expression of esr2a and esr2b in primary neuromasts, branchial arches, and other tissues.
77 citations
,
March 2000 in “Journal of Investigative Dermatology” The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
76 citations
,
February 1993 in “Journal of Biological Chemistry” This research observed that sheep and rabbit KAP6 genes, expressed in hair follicle cells, have high sequence similarity and indicate conservation due to evolutionary selection pressures.
75 citations
,
July 2016 in “New phytologist” This study found that RSL4 in Arabidopsis thaliana regulates genes necessary for root hair elongation by controlling proteins involved in cell signaling, cell wall modification, and secretion.
75 citations
,
September 2007 in “Journal of Heredity” This study found that mutations in the FGF5 gene are the primary genetic factor causing long hair in domestic cats through an autosomal recessive mechanism.
75 citations
,
March 2007 in “Journal of Biological Chemistry” This review discusses the complexities and uncertainties in the pathways and mechanisms for disulfide bond formation in multicellular organisms and reports no new experimental findings.
74 citations
,
January 2013 in “Journal of Investigative Dermatology” Four genetic risk spots found for hair loss, with WNT signaling involved and a link to curly hair.
74 citations
,
July 2008 in “Journal of Dermatological Case Reports” This study found that trichoscopy can diagnose genetic hair shaft abnormalities without plucking or cutting hair, by visualizing characteristic features in a single session.
74 citations
,
October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” This study discovered nine human type I hair keratin genes, including a transcribed pseudogene, in a 190 kbp genomic region, revealing three gene subclusters based on sequence homologies.
72 citations
,
August 2014 in “Genome Biology and Evolution” This study found that the differential expression of α- and β-keratin genes in feathers may explain their morphological and structural diversity, highlighting the chicken as a model for studying keratin-related diseases.
72 citations
,
May 1993 in “The Journal of Cell Biology” This study detailed the structure and amino acid composition of sheep trichohyalin, noting its presence in various tissues and suggesting a possible functional role beyond structural support in hair follicles.
71 citations
,
February 2012 in “The American Journal of Human Genetics” This study found that a heterozygous missense mutation in ATR is associated with a hereditary cancer syndrome, manifested by oropharyngeal cancer and other anomalies, in an autosomal-dominant inheritance pattern across a five-generation family.