September 2016 in “Journal of Dermatological Science” Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
44 citations
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August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
33 citations
,
October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
25 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene mutation causes varying hair loss severity in a Pakistani family.
13 citations
,
August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
1 citations
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September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
2 citations
,
November 2011 in “Pediatric dermatology” 7 citations
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November 2020 in “Journal of Tissue Viability” Transplanting a person's own hair can heal chronic wounds in certain skin conditions.
July 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” 101 citations
,
October 2007 in “Journal of Biological Chemistry” Reduced matriptase activity causes skin and hair issues in both humans and mice.
179 citations
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June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
107 citations
,
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.
91 citations
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July 2020 in “JAMA Dermatology” Minoxidil can improve hair growth in some patients with woolly hair due to LIPH variants, with varying responses and mild side effects.
66 citations
,
January 2020 in “Acta Dermato Venereologica” New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
44 citations
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March 2019 in “Experimental Dermatology” A wide range of proteins are integrated into the skin's protective layer.
39 citations
,
April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
37 citations
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August 1999 in “Journal of Investigative Dermatology” A specific gene mutation causes complete hair loss without other health issues.
27 citations
,
July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
26 citations
,
April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
21 citations
,
March 2018 in “American Journal Of Pathology” Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
18 citations
,
February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
11 citations
,
January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
10 citations
,
September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
8 citations
,
January 2014 in “Indian Journal of Paediatric Dermatology” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
7 citations
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January 2012 in “International Journal of Trichology” A man with Woolly Hair Syndrome had very curly, fragile hair, and doctors used a special scalp examination to diagnose him without invasive tests.
7 citations
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March 2015 in “British Journal of Dermatology” Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.
5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
5 citations
,
January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.