9 citations
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November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
1 citations
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September 2015 in “Clinics in Dermatology” The guide helps doctors diagnose hair problems by suggesting a thorough patient history, physical exams, and various diagnostic tools.
38 citations
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January 2014 in “International Journal of Endocrinology” Adrenal disorders can cause lasting brain and behavior issues in children.
January 2018 in “Stem cell biology and regenerative medicine” The conclusion is that the nuclear lamina and LINC complex in skin cells respond to mechanical signals, affecting gene expression and cell differentiation, which is important for skin health and can impact skin diseases.
61 citations
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January 2013 in “Indian Journal of Dermatology, Venereology and Leprology” Hair usually grows back 1-3 months after treatment for anagen effluvium, and children with Loose Anagen Hair Syndrome often improve by adolescence.
55 citations
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October 1992 in “Archives of Dermatology” Loose Anagen Hair Syndrome is a hereditary condition causing hair loss in children due to abnormal hair follicles.
50 citations
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April 2014 in “Nature Communications” The research identified new skin traits in mice, some linked to human skin conditions.
5 citations
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October 1984 in “The BMJ” Up to 50% of scalp hair can be lost before it appears thin, and treatment is only needed for hair loss caused by diseases or deficiencies.
January 2026 in “Forum Dermatologicum” Hair loss can be caused by cancer, treatments, or skin conditions, and trichoscopy helps diagnose it.
26 citations
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December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
28 citations
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February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
4 citations
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April 1978 in “PubMed” Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
January 2013 in “Journal of dermatology” A new medical syndrome may include skin changes, hair loss, sweating issues, bone malformations, leg swelling, and low cortisol.
6 citations
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December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
6 citations
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November 2018 in “Case reports in nephrology and dialysis” Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.
249 citations
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May 2003 in “Developmental Biology” Ectodysplasin-A1 is crucial for developing hair, teeth, and glands.
119 citations
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November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
117 citations
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April 2008 in “Developmental biology” Ectodysplasin inhibits Wnt signaling to help form hair follicles.
30 citations
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August 1984 in “Journal of the American Academy of Dermatology” Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
1 citations
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May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
49 citations
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August 1999 in “Journal of Investigative Dermatology” Overexpressing the MSX-2 gene in mice causes skin and hair growth issues.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
January 2024 in “Pediatric Dermatology” Minoxidil improved hair growth in a child with a rare genetic disorder.
2 citations
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July 2021 in “Genes” A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
1 citations
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September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
8 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.