5 citations
,
May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
1 citations
,
October 2025 in “Micromachines” Portable point-of-care testing can improve quick and accurate genetic disorder detection.
14 citations
,
January 2014 in “Dermatology Research and Practice” Many infants in Northern Ethiopia have zinc deficiency.
4 citations
,
January 2023 in “Frontiers in Medicine” Zinc is important for skin health, and supplements can help treat various skin and hair disorders, but more research is needed for conditions like psoriasis and vitiligo.
January 2020 in “Journal of Clinical Biochemistry and Nutrition” Low zinc levels in chronic liver disease patients are linked to more severe symptoms like taste issues and skin problems, and zinc supplements might help.
148 citations
,
May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
January 2024 in “Kafkas Universitesi Veteriner Fakultesi Dergisi” A specific genetic variation affects wool quality in sheep.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
5 citations
,
November 2022 in “Animal Genetics” Genomic research can help improve the quality and production of natural fibers in animals.
May 2023 in “Elsevier eBooks” The document's conclusion cannot be provided because the document is not readable or understandable.
19 citations
,
February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
1 citations
,
June 2022 in “JCRPE” Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
2 citations
,
January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
3 citations
,
December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
32 citations
,
January 2022 in “International Journal of Molecular Sciences” Melatonin, a hormone, can help protect skin from aging by reducing stress, inflammation, and damage, and may also help treat hair loss in women.
18 citations
,
August 2024 in “eLife” JAK inhibition may help manage autoimmune conditions in Down syndrome.
14 citations
,
March 2022 in “Journal of Biomedical Science” Cyanidin 3-O-arabinoside may help treat a common form of hair loss by protecting cells against aging and improving cell function.
11 citations
,
November 2021 in “JBMR plus” The vitamin D receptor can act without its usual activating molecule, affecting hair growth and skin cancer, but its full range of actions is not well understood.
9 citations
,
December 2021 in “Androgens” Androgens like testosterone may help treat traumatic brain injury by reducing mitochondrial stress and inflammation.
6 citations
,
July 2024 in “Heliyon” Steroid 5α-reductase evolved from protists and diversified in eukaryotes, with specific roles in mammals and plants.
6 citations
,
December 2015 in “International journal of immunopathology and pharmacology” AE can have varied symptoms and genetic causes, but zinc therapy helps.
4 citations
,
December 2022 in “International Journal of Molecular Sciences” Zinc is crucial for skin health and treating various skin disorders.
3 citations
,
June 2025 in “Frontiers in Nutrition” Zinc effectively treats most children with acrodermatitis enteropathica, but underlying metabolic issues may require additional management.
November 2025 in “American Journal of Case Reports” Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
September 2025 in “Cosmetics” Genetic profiling can improve androgenetic alopecia treatment by predicting drug response and minimizing side effects.
February 2025 in “Journal of Investigative Dermatology” The ZIP13 variant is linked to abnormal hair quality.
March 2018 in “The journal of applied laboratory medicine” The rash on the infant indicated a serious underlying condition.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.