1 citations
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June 2025 in “Pigment Cell & Melanoma Research” SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
September 2016 in “Journal of Dermatological Science” A gene mutation worsens skin irritation in mice due to a lack of certain fats.
1 citations
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February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
139 citations
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September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
98 citations
,
March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
34 citations
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July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
107 citations
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March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
86 citations
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October 2005 in “Experimental Dermatology” The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
14 citations
,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
13 citations
,
July 2012 in “Pigment Cell & Melanoma Research” A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
11 citations
,
October 2007 in “Journal of Investigative Dermatology” Mutations in the Sgk3 gene cause fuzzy hair in mice.
5 citations
,
June 2023 in “BMC genomics” A specific gene mutation causes long hair in Angora rabbits.
August 2025 in “Biomedicines” Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
5 citations
,
September 2018 in “International journal of genomics” Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.
260 citations
,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
57 citations
,
August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
30 citations
,
June 2021 in “British Journal of Dermatology” Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
19 citations
,
May 2016 in “Biology Direct” A new method, iSiMPRe, effectively identifies key protein regions in cancer genes, highlighting potential drug targets.
3 citations
,
July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
May 2015 in “Journal of Investigative Dermatology” Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
April 2015 in “Experimental Dermatology” Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
September 2007 in “Journal of Investigative Dermatology” ANp63 is crucial for skin integrity, new filaggrin gene mutations link to eczema, hair can regrow from non-stem cells, sunburns are increasing, and glucocorticoids help treat skin allergies by affecting immune cells.
30 citations
,
October 2009 in “Journal of Veterinary Internal Medicine” A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.
39 citations
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January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.