2 citations,
January 2019 in “Springer eBooks” Segmental Vitiligo is a stable, early-onset form of vitiligo that responds well to early treatment and is ideal for repigmentation studies.
September 2021 in “Research Square (Research Square)” Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
188 citations,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
39 citations,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
August 2013 in “Fertility and Sterility” PCOS may be influenced by factors in the blood, not just the ovaries.
118 citations,
October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
68 citations,
May 2016 in “Experimental dermatology” FFA's causes may include environmental triggers and genetic factors.
research Acne
2 citations,
May 2011 in “Harper's Textbook of Pediatric Dermatology” Acne is a common skin condition linked to diet, hormones, and genetics, and early treatment can prevent scarring.
65 citations,
September 2010 in “Journal of the Neurological Sciences” Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
77 citations,
June 2015 in “Nature Reviews Urology” Some common medications can harm male fertility, but many effects can be reversed.
14 citations,
January 2008 in “Gene therapy” Gene therapy shows promise for enhancing physical traits but faces ethical, safety, and regulatory challenges.
June 2008 in “Springer eBooks” The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
32 citations,
February 2008 in “Developmental dynamics” Mice without the Sp6 gene have problems developing several body parts, including hair, teeth, limbs, and lungs.
5 citations,
May 2021 in “EMBO journal” Cell polarity signaling controls tissue mechanics and cell fate, with complex interactions and varying pathways across species.
34 citations,
July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
59 citations,
March 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” Smad-4 and Smad-7 are key in hair follicle development, with other Smads being less important.
September 2019 in “Journal of Investigative Dermatology” People with pattern hair loss have higher polyamine levels in the top of their head compared to the back.
71 citations,
February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
136 citations,
September 2019 in “Journal of Clinical Investigation” Dermal adipose tissue in mice can change and revert to help with skin health.
1 citations,
October 2023 in “Frontiers in Oncology” Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
13 citations,
September 2022 in “Biomolecules” The research confirms that Hidradenitis Suppurativa is characterized by increased inflammation, disrupted skin cell organization, and abnormal metabolic processes.
27 citations,
October 2017 in “British Journal of Dermatology” Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
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.
2 citations,
April 2020 in “International Journal of Dermatology and Venereology” Beta-HPV and MCPyV are linked to certain skin cancers, with ongoing research and vaccine development.
6 citations,
July 2015 in “International Journal of Dermatology” Trichoepitheliomas can be hard to distinguish from other skin conditions and often start in teenage years.
18 citations,
June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” A gene called Gk5 controls lipid production in the skin and affects hair growth.
16 citations,
July 2021 in “Histopathology” New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
8 citations,
May 2019 in “Journal of dermatological treatment” Vismodegib is effective for basal cell carcinoma but has severe side effects.
1 citations,
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.