September 1997 in “Journal of The European Academy of Dermatology and Venereology” Hormonal differences affect male pattern baldness.
1 citations
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September 2015 in “Clinics in Dermatology” This article provides a diagnostic guide for clinicians to differentiate between various hair shaft disorders by using a structured question-by-question approach but does not report new clinical findings.
38 citations
,
October 2001 in “British Journal of Dermatology” This study identified a new keratin, K6irs, as a potential histological marker for the inner root sheath of hair follicles in mice and humans, and as a candidate gene for hereditary hair defects.
6 citations
,
May 1993 in “Archives of Disease in Childhood” Children's hair loss can be caused by many factors, including autoimmune diseases, emotional stress, genetics, and infections, with treatment and prognosis varying.
39 citations
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December 2012 in “The American Journal of Human Genetics” This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.
17 citations
,
November 2012 in “Journal of Investigative Dermatology” This paper reviews the genetic aspects of hair disorders and suggests that understanding these genes could advance treatment and diagnosis; it reports no new experimental findings.
11 citations
,
September 2010 in “American Journal of Medical Genetics - Part A” This study reports a mutation in the U2HR gene causing Marie Unna hereditary hypotrichosis in a Turkish family and notes eyebrow loss as a diagnostic clue.
1308 citations
,
March 1998 in “Journal of bone and mineral research” This review discusses the molecular role of the vitamin D receptor in regulating various biological actions such as bone mineralization and reports no new clinical results, highlighting the complexity of vitamin D's function in multiple tissues.
43 citations
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December 2013 in “Seminars in Cell & Developmental Biology” This mini-review discusses human hair follicle development and summarizes genetic disorders linked to abnormalities in hair follicle morphogenesis, structure, or regeneration, but reports no new experimental results.
June 2008 in “Springer eBooks” The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
151 citations
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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.
July 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” This source reports findings from a case study detailing hair loss in two female patients, published in the JDDG: Journal der Deutschen Dermatologischen Gesellschaft, emphasizing that specific diagnostic outcomes or treatment results are not included in the summary.
271 citations
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March 1999 in “Developmental biology” This study reveals that overexpression of Wnt3 in transgenic mouse skin leads to a short-hair phenotype and cyclical balding due to structural defects in hair shafts, highlighting a role for WNT signaling in hair growth regulation.
44 citations
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February 2012 in “The journal of neuroscience/The Journal of neuroscience” This study observed that Ptprq mutant mice exhibit significant abnormalities in hair bundle structure and vestibular dysfunction, suggesting similar issues may contribute to hearing loss and vestibular problems in humans with PTPRQ mutations.
55 citations
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October 1992 in “Archives of Dermatology” In this study, researchers observed that loose anagen hair syndrome is an autosomal dominant disorder characterized by abnormal hair follicle structure and premature keratinization, possibly due to signaling and desmosomal component disturbances.
45 citations
,
March 2001 in “Journal of Investigative Dermatology” This study identified a new cytokeratin, mK6irs, specifically expressed in the inner root sheath of mouse hair follicles, distinguishing it as a member of the type II cytokeratin family.
9 citations
,
January 2015 in “Current problems in dermatology” This review highlights recent genetic research advancements in understanding hereditary hair diseases but reports no new study results, emphasizing the identification of genes related to both monogenic and polygenic hair disorders.
6 citations
,
November 1988 in “Journal of the American Academy of Dermatology” The document concludes that hair analysis is not good for assessing nutrition but can detect long-term heavy metal exposure.
This study utilized polarized light microscopy to examine hair shafts in ten children with rare genetic disorders, such as Netherton syndrome and ectodermal dysplasia, providing valuable diagnostic insights into hair thickness, composition, and structural irregularities associated with these conditions.
This chapter reviews various fungal skin diseases affecting cattle but does not report new research findings; it focuses on rare, inherited, and congenital conditions like follicular dysplasia and cutaneous asthenia.
99 citations
,
July 2012 in “PLoS Genetics” This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.
5 citations
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February 2019 in “PloS one” This study found that structural defects in the hair shafts of sighthounds with bald thigh syndrome are related to a downregulation of genes and proteins essential for hair shaft formation.
January 2012 in “International Journal of Trichology” Two siblings have a rare genetic condition causing curly, coarse hair.
7 citations
,
November 2000 in “Clinics in Dermatology” In this study, pediatric patients with overt polyautoimmunity frequently had systemic lupus erythematosus as an index disease, with clustering patterns revealing familial influence on autoimmune disease aggregation.
15 citations
,
May 2014 in “Journal of Biological Chemistry” In this study, targeting the expression of a keratin KRT5/KRT8 chimeric cDNA in keratin-deficient mice partially restored structural defects in epidermal cells, but did not fully normalize skin health.
1 citations
,
August 2011 in “Dermatology Reports” This case report describes a new family with autosomal recessive hypotrichosis simplex with woolly hair, suggesting the disorder may be underreported due to misdiagnosis.
1398 citations
,
May 2008 in “Histochemistry and Cell Biology” This review summarizes the cell type distribution and functional significance of human keratins, emphasizing their roles in tumor diagnosis and potential clinical applications, and reports no new clinical findings.
30 citations
,
August 1983 in “Pediatric Clinics of North America” Most hair loss in children is caused by a few common conditions, and it's important to diagnose these properly and support the child's mental health.
12 citations
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September 2017 in “JDR Clinical & Translational Research” In this study, researchers observed that the success of treating hereditary vitamin D–resistant rickets in children depends on the mutation location in the VDR gene, notably with favorable dental development outcomes for those with the p.R391S mutation, despite persistent alopecia.
2 citations
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July 2015 in “Archives of Dermatological Research” This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.