June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
47 citations
,
September 2002 in “Journal of Bone and Mineral Research” A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
7 citations
,
December 2017 in “Basrah Journal of veterinary Research” Zinc and copper deficiency harms sheep health and normal body functions.
1 citations
,
January 2013 in “Nasza Dermatologia Online” Vitamin B12 deficiency can cause reversible hair color loss in children.
107 citations
,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
1 citations
,
April 2007 in “The FASEB Journal” Lack of certain fatty acids causes skin, immune, and fertility issues in mice.
November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.
12 citations
,
January 1987 in “Carcinogenesis” TCDD changes skin cell growth and keratin production in mice.
29 citations
,
January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” P-cadherin is crucial for hair follicle pigmentation but not skin pigmentation.
46 citations
,
March 2005 in “Endocrinology” Overexpression of the glucocorticoid receptor in mice causes developmental defects similar to ectodermal dysplasia.
7 citations
,
April 2004 in “International Journal of Dermatology” The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
17 citations
,
November 2000 in “Journal of Investigative Dermatology” ZPK helps skin cells mature and may affect skin health.
1 citations
,
January 2017 in “International Journal of Trichology” A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
1 citations
,
January 2016 in “INTAS POLIVET” High selenium levels in some areas cause health issues in cows and buffaloes, but blood tests remain normal.
September 2021 in “Research Square (Research Square)” Certain hormone levels can help diagnose P450 oxidoreductase deficiency.
4 citations
,
January 1970 in “Journal of Bangladesh College of Physicians and Surgeons” Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
54 citations
,
November 1995 in “The Journal of Clinical Endocrinology & Metabolism” Females with 5 alpha-reductase-2 deficiency have less body hair, no acne, normal fertility, and delayed menarche.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
October 2024 in “Frontiers in Immunology” Pertussis toxin may contribute to hair loss in alopecia areata.
3 citations
,
July 2023 in “International Journal of Trichology” DPCP can help regrow hair in some people with severe alopecia.
5 citations
,
May 2019 in “Hormone and Metabolic Research” Women with nonclassic 21-hydroxylase deficiency can have successful pregnancies through IVF, with certain factors affecting their chances.
75 citations
,
January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
53 citations
,
May 2010 in “Journal of Cellular Physiology” Mice without Vitamin D receptors have hair growth problems because of issues in the hedgehog signaling pathway.
1 citations
,
November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
April 1977 in “Pediatric Research” 5 citations
,
June 2008 in “British Journal of Dermatology”
2 citations
,
July 2015 in “Archives of Dermatological Research” A new gene variant in the DSP gene is linked to a unique type of hair loss.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.