152 citations
,
December 2007 in “Gender Medicine” This review discusses recent advances in understanding gender differences in skin and their implications for dermatologic diseases, but it reports no new experimental results; ongoing research is necessary for translating these insights into clinical practice.
152 citations
,
January 2004 in “Current anthropology” Humans lost body hair relatively recently in evolution.
151 citations
,
June 2010 in “Endocrinology and metabolism clinics of North America” This article compares two rare genetic diseases, vitamin D-dependent rickets type 1 and type 2, focusing on their similar presentations of hypocalcemia and rickets in infancy, but reports no new clinical results.
143 citations
,
September 1991 in “Archives of Dermatology” In this study, patients with generalized pustular psoriasis were classified into subgroups to better understand the disease's variability and assist in treatment selection, highlighting the role of localized infections in triggering flares.
143 citations
,
January 2007 in “The American Journal of Human Genetics” This study identified four genetic loci on chromosomes 6, 10, 16, and 18 that may contribute to susceptibility for alopecia areata and suggested shared genetic factors with psoriasis.
139 citations
,
September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” This case report describes a patient with mutations in both alleles of the vitamin D receptor who exhibited hair loss clinically indistinguishable from generalized atrichia with papules, suggesting a potential genetic pathway shared with the hairless gene.
133 citations
,
February 2017 in “PLoS Genetics” In this study, researchers used genetic data from over 52,000 men to identify over 250 genetic loci associated with severe hair loss and developed a predictive algorithm for determining hair loss risk.
133 citations
,
January 2009 in “Nature” This study identified gene expression patterns in a mouse model that may influence tumor susceptibility and tissue functions related to inflammation and cell proliferation, highlighting Lgr5 and the vitamin D receptor as key regulators.
131 citations
,
September 2010 in “The Laryngoscope” This study found that forehead feminization significantly contributes to recognizing female gender and reported that feminizing forehead cranioplasty is a safe procedure with a low complication rate.
130 citations
,
January 2000 in “Nature biotechnology”
129 citations
,
January 2007 in “Otology & Neurotology” This study found that delivering math1 via an adenovector led to vestibular hair cell regeneration and improved balance function in ototoxin-treated adult mice.
128 citations
,
December 2006 in “Journal of Biological Chemistry” This study found that overexpression of the enzyme spermidine/spermine N1-acetyltransferase in mice was associated with increased fat oxidation and a leaner phenotype, while knock-out mice exhibited increased fat accumulation.
126 citations
,
February 2017 in “JAMA Surgery” This article outlines best practices from the World Professional Association for Transgender Health's standards to guide health care professionals in providing comprehensive care for transgender individuals, addressing mental health, endocrinology, and surgery.
126 citations
,
January 1987 in “Current topics in developmental biology/Current Topics in Developmental Biology” Different keratin proteins are expressed in various epithelial cells at different stages, affecting cell structure and function.
125 citations
,
August 2020 in “Frontiers in Immunology” This review discusses sex-based differences in immune responses, focusing on genetic, hormonal, and microbiome factors influencing infections like COVID-19, and reports no clinical results.
119 citations
,
August 2008 in “BMC Evolutionary Biology” This study found that while the KRTAP gene family is unique to mammals, humans have a similar number of these hair gene types as other primates despite having less body hair.
115 citations
,
March 2019 in “Nature Communications” This study identified significant genetic associations with frontal fibrosing alopecia at four genomic loci, suggesting it is a genetically predisposed immuno-inflammatory disorder influenced by the HLA-B*07: 02 allele.
114 citations
,
August 2002 in “Journal of Investigative Dermatology” Alopecia areata is caused by an immune response, and targeting immune cells might help treat it.
112 citations
,
January 2004 in “The International journal of developmental biology” This study found that feather patterning is primarily self-organizing and dynamic, relying on both genetic and epigenetic controls, with implications for similar processes like fingerprints and pigmentation.
111 citations
,
January 2007 in “Seminars in cell & developmental biology” This article reviews the similarities in early development processes of hair follicles, teeth, and mammary glands and reports no new experimental findings.
107 citations
,
June 1997 in “PubMed” In this study, disrupting the epidermal growth factor receptor in mice led to abnormal hair and skin development, characterized by disorganized hair follicles and systemic disease, providing a model for understanding EGFR's role in skin biology.
106 citations
,
September 2010 in “Stem cells” This study found that skin-derived precursor cells in mice can originate from both neural crest and somite lineages but show functional similarities regardless of their developmental origins.
106 citations
,
June 2009 in “BMC Genomics” This study identified specific gene expression profiles during the intestinal regeneration of sea cucumbers, highlighting potential novel genes and advancing the understanding of regenerative biology in echinoderms.
105 citations
,
February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, sequences upstream of the TGM3 gene were found to regulate epithelial-specific gene expression in keratinocytes, suggesting potential applications in gene therapy.
99 citations
,
January 2014 in “Nature communications” In this study, researchers developed a method to differentiate human iPSCs into cells that can generate all lineages of hair follicles, potentially aiding treatments for hair loss and skin disorders.
98 citations
,
May 2016 in “Genes” This review explains the genetic diversity of sheep wool keratin-associated protein genes and explores how this variation might be leveraged for selective breeding to enhance wool fiber traits.
98 citations
,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.
98 citations
,
December 1991 in “Annals of the New York Academy of Sciences” This study found that conserved DNA motifs and expression patterns in keratin genes suggest functional regulatory similarities in hair follicle differentiation across different mammalian species.
98 citations
,
July 1983 in “Journal of Steroid Biochemistry” This study in the Arab population of Gaza described pseudohermaphroditism due to 17β-HSD deficiency, where individuals showed marked masculinization after puberty despite inadequate androgen proportions.
97 citations
,
March 2002 in “Molecular and cellular biology” This study found that mice with a mutant CDP/Cux protein lacking the homeodomain showed severely impaired growth, high postnatal mortality, and reduced fertility, highlighting CDP/Cux's role in developmental regulation.