36 citations,
January 2019 in “Nature communications” High lactate dehydrogenase activity is not necessary for the growth of squamous cell carcinoma.
32 citations,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
April 2024 in “Acta scientific dental sciences” Improving oral hygiene and quitting smoking can resolve black hairy tongue.
532 citations,
August 2011 in “Journal of the American Academy of Dermatology” Vitiligo is a skin condition causing white spots, more common in women, often starts before age 20, and can affect mental health.
29 citations,
March 2019 in “British Journal of Dermatology” Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
25 citations,
December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
1 citations,
January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” FLCN helps control iron levels in cells.
June 1996 in “Irish Journal of Medical Science (1971 -)” The document summarizes medical findings on topics like heart rhythm treatment, sleep apnea therapy, and various health conditions and treatments.
1 citations,
November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
78 citations,
November 2008 in “Fertility and Sterility” Amenorrhea is relatively rare and initial testing should check FSH, TSH, and prolactin levels.
9 citations,
July 2009 in “Journal Of Endocrinology, Metabolism And Diabetes Of South Africa” The document concludes that managing PCOS involves treating symptoms and reducing long-term metabolic risks, with lifestyle changes being important.
17 citations,
May 2014 in “Cell transplantation” Genetically modified stem cells from human hair follicles can lower blood sugar and increase survival in diabetic mice.
26 citations,
June 2012 in “The Journal of Obstetrics and Gynecology of India” Most skin changes during pregnancy are harmless and temporary, but some can risk the fetus and need careful treatment.
1 citations,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
124 citations,
January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
179 citations,
June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
276 citations,
April 2003 in “Molecular endocrinology” Vitamin D is important for bones, hair, blood pressure, and breast development.
16 citations,
January 2017 in “Asian journal of andrology/Asian Journal of Andrology” Men who start puberty later may have lower sperm quality and different hormone levels in adulthood.
1 citations,
June 2023 in “Medicina” People with Epidermolysis bullosa have many health problems including poor oral health, which is often neglected due to other medical issues.
6 citations,
July 2019 in “Experimental Dermatology” Skin can produce blood cells, often due to disease, which might lead to new treatments for skin and blood conditions.
3 citations,
January 2015 in “Indian journal of paediatric dermatology” Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
4 citations,
February 2022 in “International Journal of Molecular Sciences” Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
1 citations,
September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
81 citations,
November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
May 2017 in “American Society of Health-System Pharmacists eBooks” 238 citations,
March 2013 in “Development” Fat cells help recruit healing cells and build skin structure during wound healing.
55 citations,
October 2014 in “Development” Wnt, Eda, and Shh pathways are crucial for different stages of sweat gland development in mice.
7 citations,
March 2017 in “Journal of dermatology” The conclusion is that accurately identifying folliculosebaceous tumors requires understanding their clinical signs and microscopic features.
1 citations,
July 1973 in “British Journal of Dermatology” The document concludes that secondary syphilis cases are increasing and often misdiagnosed, pityriasis rubra pilaris can be distinguished from psoriasis by skin cell features, and different skin layers produce specific components during skin repair.
47 citations,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.