107 citations
,
March 2014 in “BoneKEy Reports” This abstract reviews hereditary vitamin D-resistant rickets, a rare genetic condition causing severe early childhood rickets, and reports no new results; effective treatment typically requires high doses of calcium to address hypocalcemia and secondary hyperparathyroidism.
October 2024 in “Journal of the Endocrine Society” This case report highlights that a patient with resistance to thyroid hormone was misdiagnosed as having Graves’ disease, leading to unnecessary radioactive iodine treatment.
3 citations
,
June 2025 in “Gyemyeong uidae haksulji” This review suggests that PDRN shows promise as a safe and versatile regenerative agent for wound healing and other dermatological applications, based on its dual mechanisms and clinical evidence of efficacy.
47 citations
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February 1998 in “Journal of bone and mineral research” In this study, researchers identified a unique Arg30stop mutation in the vitamin D receptor gene that causes hereditary vitamin D-resistant rickets in a young French-Canadian boy by truncating the receptor and causing hormone resistance.
2 citations
,
January 1993 This study found that human trichohyalin has a unique protein sequence potentially contributing to at least three important functions in hair follicle and epidermal cells.
January 2006 in “Basic & Clinical Medicine” In this study, injection of hair keratin artificial material into rats did not significantly affect leucocytes or blood plates compared to normal saline, suggesting its histocompatibility.
2 citations
,
July 2021 in “Genes” This study identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.
30 citations
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January 2013 in “Human Mutation” This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.
5 citations
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January 2006 in “Journal of veterinary medical science” This study found that small amounts of RNA present in horsehair roots can be used for molecular biological analysis, although detecting mRNA transcripts in the hair shaft is more challenging.
This case study reports significant clinical and hormonal improvement in a 21-year-old woman with HAIR-AN syndrome after nine months of treatment with oral contraceptives and spironolactone.
December 2024 in “European journal of medical research” This study suggests that the NCSTN knockout mouse could serve as an HS animal model, with tamoxifen potentially used for gene deletion in mice.
6 citations
,
January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This case series describes three siblings with hereditary vitamin D-resistant rickets, highlighting variations in their clinical presentations.
9 citations
,
April 2020 in “Journal of dermatology” This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.
3 citations
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July 2009 in “Experimental and Clinical Endocrinology & Diabetes” In this study, Buserelin nasal spray significantly reduced hirsutism scores and suppressed ovarian steroid secretion in women with non-adrenal hirsutism over six months, with effects lasting post-treatment.
10 citations
,
January 2003 in “Dermatology” This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.
2 citations
,
January 2015 in “Hair transplant forum international” This article discusses the introduction of human recombinant hyaluronidase in hair restoration surgery and presents no new clinical results.
March 2018 in “International Society of Hair Restoration Surgery” This announcement outlines job opportunities at the Anderson Center for Hair and provides no clinical research findings.
23 citations
,
July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
37 citations
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March 2010 in “British Journal of Dermatology” Oestrogen and thyrotropin-releasing hormone affect prolactin and its receptor in human skin and hair, suggesting new treatment options for related conditions.
20 citations
,
January 2002 in “Laboratory Animals” This study identified a compound heterozygous mutation in a hairless rhesus macaque, which was associated with skin abnormalities similar to those in hairless mice and humans with APL.
66 citations
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December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
40 citations
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February 1946 in “Canadian Journal of Research/Canadian journal of research” This study observed that the hair loss in homozygous rhino mice is associated with widening of the hair canal due to hyperkeratosis, leading to insufficient support for hair anchoring.
July 2018 in “Hair transplant forum international” This abstract contains only author affiliations and mentions the Asian Association of Hair Restoration Surgeons, without presenting any new research findings.
21 citations
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April 2014 in “PLoS ONE” In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
September 2017 in “Journal of Investigative Dermatology” This study found that after four weeks of daily use, the roughness of the hair surface significantly decreased, as shown through quantitative image analysis using HIROX.
November 2002 in “Hair transplant forum international” This announcement from the President of the American Board of Hair Restoration Surgery reports the formation and incorporation of the International Board of Hair Restoration Surgery, but offers no new research findings.
2 citations
,
January 1990
4 citations
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.
July 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This study concluded that a new model of reconstructed human epidermis using keratinocytes from plucked hair follicles offers a less-invasive alternative to conventional skin-derived models for skin research.
April 2022 in “Our Dermatology Online” This case report details a 40-year-old woman with idiopathic hirsutism, as she exhibited terminal hair on the left side of her chin without signs of hyperandrogenism.