October 2023 in “Case reports in dermatological medicine” In this case report, a 45-year-old Jordanian woman was diagnosed with Clouston syndrome, an autosomal-dominant disorder characterized by alopecia and nail dystrophy due to a mutation in the GJB6 gene, though she lacked the typical palmoplantar keratoderma.
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.
November 2018 in “Atlas of genetics and cytogenetics in oncology and haematology” The review discusses the diverse roles of WNT10B in mammary gland development, immune function, and its potential implications in cancer and regenerative processes, with no new experimental results.
February 2009 in “Journal of The American Academy of Dermatology” The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
September 2003 in “Journal of the Royal Society of Medicine” Doctors should set boundaries and seek outside help for family medical issues.
January 1961 in “The Journal of Anthropological Society of Nippon” This study examined hair from a mixed-heritage family and suggested that variations in pigment formation significantly influence hair form, including the occurrence of twist-knots.
This study reported that paracrine factors, such as IGF-I and SCF, were reduced in balding hair follicles compared to non-balding ones, while inhibitory factors like TGFß-1 were increased, providing insights into the androgen action in hair follicles.
161 citations
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March 1992 in “International Journal of Dermatology” This study analyzed survey responses from 800 alopecia areata patients and found a possible genetic association with increased insulin-dependent diabetes mellitus in relatives but not in the patients themselves.
119 citations
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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.
92 citations
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February 2005 in “Journal of Investigative Dermatology” 81 citations
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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.
77 citations
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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.
65 citations
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February 1992 in “Development” This study characterizes a type II keratin intermediate filament gene family involved in early sheep follicle differentiation, detailing gene expression patterns and sequences in hair cortical cells.
62 citations
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March 2011 in “European journal of endocrinology” This study found that parents identified with cryptic NCCAH through genetic testing are mostly asymptomatic but may experience temporary female infertility and require glucocorticoid stress coverage in specific circumstances.
53 citations
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May 1988 in “Journal of Molecular Evolution” 52 citations
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April 2012 in “Journal of Investigative Dermatology” This study found that KRTAP2 proteins predominantly express in the hair shaft cortex of humans, interact with hair keratins, and play crucial roles in hair shaft keratinization.
41 citations
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January 2001 in “Journal of Investigative Dermatology” 35 citations
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September 1994 in “Journal of Investigative Dermatology” 32 citations
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November 2020 in “UNC Libraries” This study identified a mutation in the steroid-binding domain of the androgen receptor gene associated with complete androgen insensitivity syndrome, impairing male sexual development due to altered androgen receptor protein function.
23 citations
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December 2013 in “British Journal of Dermatology” This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
23 citations
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September 2009 in “Child Abuse & Neglect” This case report highlights the importance of considering hair-thread tourniquet syndrome as a potential diagnosis for girls with genital swelling and pain, emphasizing the need for prompt intervention.
22 citations
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January 2021 in “Pharmacognosy Journal” This review discusses the traditional uses, phytochemical, and pharmacological studies on Ageratum conyzoides, Tridax procumbens, and Bidens pilosa, emphasizing the need for further clinical research into their medicinal potential, but it does not report new results.
22 citations
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August 1999 in “Mechanisms of Development” This study identified two novel genes, pmg-1 and pmg-2, expressed in various skin and gland tissues and potentially involved in the differentiation of epithelial cells in epidermal appendages.
21 citations
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January 2008 in “Journal of Pediatric Endocrinology and Metabolism” This study found that combined treatment with anastrozole and cyproterone acetate improved the adult height prognosis in testotoxicosis, as observed in two brothers, with good tolerance reported.
21 citations
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September 1997 in “British Journal of Dermatology” This study found that monilethrix in three unrelated European families is linked to the type II keratin gene cluster on chromosome 12q13, with no evidence of defects in type I keratins.
20 citations
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October 2005 in “Archives of Dermatological Research”
14 citations
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April 2011 in “Journal of the American Academy of Dermatology” Researchers found a gene mutation responsible for a rare hair loss condition.
12 citations
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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
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February 1998 in “Gene” This study identified two high sulfur protein genes, B2E and B2F, in rats, which are expressed in hair cortical cells during anagen and contribute to hair fiber production.