22 citations,
October 1996 in “Dermatologic clinics” Understanding intermediate filaments helps explain hair health and related diseases.
65 citations,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
62 citations,
April 2016 in “Best Practice & Research in Clinical Obstetrics & Gynaecology” The conclusion is that there's a need for a new conference to establish stricter guidelines for diagnosing Polycystic Ovary Syndrome (PCOS).
27 citations,
July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
1 citations,
April 2023 in “Frontiers in Genetics” The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
December 2022 in “Cumhuriyet medical journal” Different PCOS subgroups have similar metabolic features, but those without menstrual problems have milder issues.
November 2022 in “Journal of Investigative Dermatology” Rare genetic variants in 125 genes are linked to male-pattern hair loss.
36 citations,
December 2014 in “F1000 prime reports” The document concludes that Hidradenitis suppurativa is often underdiagnosed, lacks definitive treatment, and requires better awareness and management strategies.
18 citations,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
6 citations,
December 2015 in “International journal of immunopathology and pharmacology” AE can have varied symptoms and genetic causes, but zinc therapy helps.
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.
353 citations,
July 2015 in “Molecular immunology” Porcine skin is very similar to human skin, making it a useful model for research.
91 citations,
January 2010 in “Journal of Allergy and Clinical Immunology” NK cells play a role in skin diseases like eczema and psoriasis.
53 citations,
July 2016 in “Cosmetics” Future hair cosmetics will be safer and more effective.
25 citations,
June 2022 in “Developmental cell” Overactivating Hedgehog signaling makes hair follicle cells in mice grow hair faster and create more follicles.
1 citations,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
January 2024 in “Biomedicines” The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
June 2023 in “Frontiers in Genetics” Genes related to calcium signaling and lipid metabolism are important for curly hair in Mangalitza pigs.
January 2017 in “Open Journal of Endocrine and Metabolic Diseases” The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
April 2024 in “Journal of clinical medicine” Classical PCOS types A and B are most common and linked to higher health risks.
June 2024 in “Computational and Structural Biotechnology Journal” Multi-omics techniques help understand the molecular causes of androgenetic alopecia.
October 2023 in “Cell & bioscience” A special gene region controls the re-emergence of a primitive wool type in Merino sheep, improving their wool yield and adaptability.
2 citations,
March 2021 in “Molecular Immunology” Dermal macrophages might help regrow hair.
10 citations,
July 2015 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
143 citations,
October 1996 in “Dermatologic Clinics” Too much androgen can cause hair loss; finasteride may help.
12 citations,
May 2001 in “British journal of dermatology/British journal of dermatology, Supplement” A rare benign skin tumor showed unusual features of sebaceous and sweat glands, important for correct diagnosis.
1 citations,
January 2014 in “Indian journal of dermatology, venereology, and leprology” The symptoms described align more with Haberland syndrome, not Delleman-Oorthuys syndrome.
33 citations,
November 2012 in “Journal of The American Academy of Dermatology” FPHL common in Taiwanese women; risk factors include BMI, high glucose, early puberty, fewer childbirths, oral contraceptives, and UV exposure.
11 citations,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.