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.
151 citations,
December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
111 citations,
June 2002 in “The EMBO Journal” Too much Smad7 can cause serious changes in skin tissues, including problems with hair growth, thymus shrinkage, and eye development issues.
42 citations,
January 2007 in “Pediatric dermatology” Low-potency steroids can cause serious side effects in people with skin conditions like Netherton syndrome.
33 citations,
August 1985 in “Archives of Dermatology” Acquired Progressive Kinking of Hair is likely an early sign of male pattern baldness.
17 citations,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
8 citations,
February 2015 in “Cellular immunology” Deleting Snai2 and Snai3 causes fatal autoimmunity.
5 citations,
February 2022 in “Seminars in cell & developmental biology” Recent findings suggest that genetic factors, immune system issues, and skin cell defects might contribute to the development of hidradenitis suppurativa.
2 citations,
June 2012 in “Journal of Dermatological Science” The gene HDC is important for the development of hair follicles in newborn mice.
1 citations,
July 2023 in “Nature communications” MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.
1 citations,
May 2016 in “The Nurse Practitioner” Treating PCOS is complex, involving medication like metformin and lifestyle changes, and requires attention to mental health due to high depression and anxiety rates.
1 citations,
October 1984 in “Clinics in dermatology” People distressed by minor skin changes should consult dermatologists with cosmetic expertise, and a public Cosmetic Dermatology Service with mental health support is recommended.
March 2024 in “Research Square (Research Square)” Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” AP-2α and AP-2β proteins are essential for healthy adult skin and hair.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
September 2020 in “Journal of Health, Medicine and Nursing” A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.
April 2020 in “Journal of evolution of medical and dental sciences” A one-year-old child with a genetic condition had symptoms improved by treating zinc deficiency.
April 2017 in “IOSR journal of dental and medical sciences” Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
September 2023 in “Çukurova medical journal (Online)/Çukurova medical journal” EZH2 levels decrease as fetuses develop and are higher in adult skin, which may affect skin growth and repair.
December 2022 in “Curēus” Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
January 2013 in “International journal of trichology” Vitamin D3 and its receptor are important for hair growth, and understanding receptors could help treat hair graying and skin cancer.
August 2010 in “Springer eBooks” Hormonal contraceptives are effective for teens but require careful consideration of side effects and individual health.
August 2010 in “Journal of The American Academy of Dermatology” The document explains the diagnosis and characteristics of woolly hair nevus and alopecia neoplastica.
April 1981 in “Pediatric research” Copper treatments increase copper in all tissues, but brindled female mice accumulate much more copper in their kidneys without clinical effects, unlike brindled male mice where brain copper deficiency is clinically significant.
1113 citations,
August 1999 in “The New England Journal of Medicine” Hair follicle biology advancements may lead to better hair growth disorder treatments.
165 citations,
September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
96 citations,
July 2014 in “Cold Spring Harbor Perspectives in Medicine” The document concludes that adult mammalian skin contains multiple stem cell populations with specific markers, important for understanding skin regeneration and related conditions.
91 citations,
August 2014 in “Development” The circadian clock is crucial for tissue renewal and regeneration, affecting stem cell functions and having implications for health and disease.