November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
January 2018 in “Elsevier eBooks” Progeria, a disease that causes early aging, is linked to a gene mutation and helps us understand normal aging.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
1 citations
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September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
12 citations
,
March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
4 citations
,
September 2020 in “Frontiers in Microbiology” Algal oligosaccharides help prevent hair loss and promote hair growth.
4 citations
,
January 1970 in “Journal of Bangladesh College of Physicians and Surgeons” Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
1 citations
,
June 2021 in “Cureus” A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
9 citations
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February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
February 2026 in “Editora Pasteur eBooks” A comprehensive, personalized approach is needed for treating female pattern hair loss and obesity, involving multiple medical disciplines and lifestyle changes.
36 citations
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July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
17 citations
,
May 2007 in “British Journal of Dermatology” Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
1 citations
,
July 1997 in “The Lancet” Scientists found a new protein, AMY117, common in Alzheimer's patients, which could be important for treatment and diagnosis.
7 citations
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February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
Defective nuclear transport may cause gene expression changes in Progeria.
8 citations
,
November 2009 in “The Neurologist/The neurologist” If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
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.
February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
February 2025 in “American Journal of Biomedical Science & Research” A rare combination of hair loss and excessive fine hair growth was found in celiac disease patients.
12 citations
,
January 1994 in “Dermatology” The patient's hair had unique damage and a lower sulfur-to-nitrogen ratio compared to relatives, but not compared to healthy controls.
14 citations
,
July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
73 citations
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June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
January 2021 in “ABC Heart Failure & Cardiomyopathy” A 90-year-old man was diagnosed with heart failure due to wild-type transthyretin cardiac amyloidosis.
1 citations
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May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
4 citations
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January 1987 in “Journal of The American Academy of Dermatology” A man with both skin lesions and lung cancer improved quickly with chemotherapy, suggesting the skin condition might be a reaction to immune system injury.