November 2025 in “European Journal of Endocrinology” Hair steroid profiling is a feasible, non-invasive alternative to serum analysis for assessing hormone levels and metabolism.
November 2025 in “BMC Genomics” Wrinkled skin in Xiang pigs is linked to gene changes related to oxidative stress and the extracellular matrix.
August 2025 in “International Journal of Nanomedicine” Metal-organic frameworks can help heal wounds, reduce scars, and promote hair growth, but more research is needed.
September 2023 in “Animals” Genes linked to wool fineness in sheep have been identified.
Single-cell omics can improve sheep and goat breeding by enhancing traits like wool quality and fertility.
45 citations
,
May 2022 in “Biomedicines” Analyzing follicular fluid can help predict and improve outcomes for women with PCOS undergoing fertility treatments.
June 2024 in “Computational and Structural Biotechnology Journal” Multi-omics techniques help understand the molecular causes of androgenetic alopecia.
January 2014 in “edoc (University of Basel)” Anabolic steroids and inflammation can disrupt androgen metabolism, potentially causing health issues.
29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
23 citations
,
July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
23 citations
,
January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
15 citations
,
November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
September 2025 in “JCEM Case Reports” Consider rare forms of CAH for accurate diagnosis and treatment.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
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.
30 citations
,
August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
4 citations
,
January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
May 2021 in “Journal of the Endocrine Society” A woman's hair loss and other symptoms were due to a rare hormone deficiency treatable with steroids.
26 citations
,
August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
1 citations
,
December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
81 citations
,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
15 citations
,
January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
37 citations
,
August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
A new genetic mutation was found causing hair and eye issues in a boy.
3 citations
,
April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
12 citations
,
March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.