18 citations
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January 2011 in “International journal of trichology” Hair casts, also called pseudonits, are often mistaken for other conditions.
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.
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.
July 2025 in “Journal of Investigative Dermatology” Complex basal cell carcinomas need personalized treatment due to unique genetic mutations.
3 citations
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December 2013 in “Balkan Journal of Medical Genetics” Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
32 citations
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August 2016 in “Science Signaling” Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
3 citations
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January 2020 in “JAAD Case Reports” A girl had two rare hair conditions that helped understand their overlap.
131 citations
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July 2009 in “Experimental Dermatology” The document concludes that specific cells are essential for hair growth and more research is needed to understand how to maintain their hair-inducing properties.
68 citations
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March 2008 in “Experimental dermatology” The new assay can track and measure melanosome transfer between skin cells, confirming filopodia's role in this process.
48 citations
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December 2004 in “Differentiation” Tooth papilla cells can help regenerate hair follicles and grow hair.
3 citations
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May 2017 in “British journal of dermatology/British journal of dermatology, Supplement” Certain cells around hair follicles help improve skin regeneration for potential use in skin grafts.
January 1989 in “Clinical and Experimental Dermatology” The symposium concluded that hair growth involves complex processes, including the hair follicle life cycle, the role of the dermal papilla, hair strength, pigmentation, and the impact of diseases and treatments like minoxidil on hair and skin.
52 citations
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November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
1 citations
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October 2022 in “Dermatology practical & conceptual” Isolated patchy heterochromia with pili annulati can occur without other health issues.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
22 citations
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September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
3 citations
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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
26 citations
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May 2024 in “Molecular Neurodegeneration” H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
July 2023 in “Journal of Biomedical Science” Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
May 2024 in “International journal of medicine and psychology.” Ganser syndrome may result from both organic and psychogenic factors.
April 2012 in “Neuropediatrics” Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
January 2024 in “Ankara City Hospital Medical Journal” Rhupus is a complex syndrome that combines rheumatoid arthritis and lupus, making diagnosis challenging.
8 citations
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March 2019 in “Open Biology” The document concludes that regenerating functional ectodermal organs like teeth and hair is promising for future therapies.
February 2025 in “Plastic and Aesthetic Research” Minoxidil and finasteride effectively promote hair regrowth within 3 months.
October 1995 in “Pediatric Research” 13 citations
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November 2007 in “Journal of Structural Biology” Keratin heterodimers are preferred for their specific and structural advantages.