12 citations,
March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
1 citations,
April 2024 in “Science Advances” Female cuckoo color differences are linked to their unique genes and help avoid male harassment.
40 citations,
November 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” S100A3 protein is crucial for hair shaft formation in mice.
27 citations,
November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
January 2025 in “Clinical Dermatology Review” Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
13 citations,
June 2006 in “Pituitary” A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
5 citations,
March 2005 in “Pediatric dermatology” Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
38 citations,
September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
23 citations,
October 1996 in “Dermatologic clinics” Genes affect cytokine production, which can influence chronic diseases, and certain interventions may help prevent related molecular damage.
48 citations,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
383 citations,
February 2011 in “Nature Reviews Genetics” DNA profiling in forensics has improved, but predicting physical traits and ancestry from DNA has limitations and requires ethical consideration.
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.
3 citations,
April 2023 in “Veterinary sciences” Researchers found genes that may explain why some pigs grow winter hair, which could help breed cold-resistant pigs.
2 citations,
December 2020 in “Frontiers in genetics” Researchers found genes linked to feather growth speed in Shouguang chickens, highlighting two genes that might explain differences in feathering.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
May 2020 in “International journal of molecular biology” Mutations in the AR gene cause hair thinning and loss.
January 2024 in “JAAD case reports” Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.
49 citations,
June 2019 in “eLife” Ancient DNA blocks are still present in human genomes, possibly due to advantages they provide.
7 citations,
July 2019 in “Animals” The KRTAP21-1 gene affects wool yield and can help improve wool production.
August 2022 in “Journal of Comprehensive Pediatrics” A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
1 citations,
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
1 citations,
May 2023 in “Frontiers in Endocrinology” Autism's genetics are linked with early age of puberty and less hair loss, but not with hormone levels or polycystic ovary syndrome.
37 citations,
June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
36 citations,
July 2007 in “Journal of Investigative Dermatology” Certain HLA class II alleles increase or decrease the risk of alopecia areata.
6 citations,
January 2006 in “Journal of dermatological science” Runx1 helps control the KAP5 gene in human hair follicles.
May 2023 in “IntechOpen eBooks” More research is needed to understand how testosterone is maintained in adult males.
1 citations,
August 2023 in “Journal of cutaneous pathology” The analysis of a large pilomatricoma revealed five distinct areas with different gene activity related to hair growth and tumor development.
199 citations,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
7 citations,
January 2019 in “Postepy Dermatologii I Alergologii” Certain gene variations might be linked to severe acne in women but not in men.