7 citations
,
January 2002 in “Biological Trace Element Research” Children with pituitary dwarfism have higher zinc and copper, lower manganese, and similar iron levels in hair compared to normal children.
9 citations
,
January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
16 citations
,
February 2008 in “PubMed” Vitamin B12 deficiency can cause skin darkening and white hair, but it's reversible.
48 citations
,
April 2008 in “Human Molecular Genetics” Progerin affects cell shape but not hair or skin in mice.
3 citations
,
February 2017 in “The American journal of medicine” A woman's heart failure improved after she added vitamins and changed her diet from only cheese chips and cake.
CCC1 is essential for ion balance and proper plant cell function.
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
,
June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
47 citations
,
September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
November 2024 in “Journal of Investigative Dermatology” Genetic changes in specific proteins contribute to hair loss in some women of African descent.
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
January 2023 in “Endocrine Journal” Treating classic 21-hydroxylase deficiency requires precise glucocorticoid dosing and attention to individual patient needs, with new treatments showing promise.
1 citations
,
January 2024 CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
June 2025 in “Proceedings of the National Academy of Sciences” A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
16 citations
,
January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
18 citations
,
February 2010 in “Odontology” The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
53 citations
,
September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
22 citations
,
February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
10 citations
,
November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
Vitamin D receptor actions without binding are crucial for healthy skin and hair.
6 citations
,
April 2023 in “Current Issues in Molecular Biology” A specific gene variant may increase the risk of developing Alopecia Areata.
31 citations
,
August 2005 in “The American Journal of Dermatopathology” The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
11 citations
,
April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
July 2019 in “Journal of the Formosan Medical Association” Melatonin may help with nerve pain, a hepatitis C drug is effective but has side effects, a treatment for mouth sores works but can cause blood issues, ear reconstruction with an implant is safe, HIV transmission from mother to child in Taiwan is now 0% with treatment, certain blood problems are more common in people with a tongue condition, a gene and being overweight are linked to hair loss in some women, a new technique could reduce radiation for lung nodule patients, a hepatitis treatment may lower cancer recurrence after a procedure, and adding extra screening improves tuberculosis detection in patients with lung infections.
April 2021 in “The journal of heart and lung transplantation/The Journal of heart and lung transplantation” Untreated Sheehan's Syndrome caused severe heart failure in a woman, which improved with hormone and heart failure treatment.
October 2023 in “Journal of the Endocrine Society” A woman was diagnosed with Sheehan's syndrome and a rare complication of diabetes insipidus 33 years after symptoms began, improving with hormone therapy.
September 2022 in “Research Square (Research Square)” 5% topical minoxidil improves hair density and quality in monilethrix patients.
23 citations
,
November 2019 in “International Journal of Molecular Sciences” Adipose-derived stem cells can help repair tissue in lipodystrophy patients.
23 citations
,
August 1983 in “PubMed” Clq deficiency is linked to systemic lupus erythematosus symptoms.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.