November 2023 in “Scientific reports” The research identified and described a gene important for hormone conversion in endangered catfish, which varies in activity during different reproductive stages and after hormone treatment.
4 citations
,
July 2017 in “Journal of Medical Case Reports” The 2012 criteria are better for diagnosing atypical lupus cases.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
2 citations
,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
7 citations
,
August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
23 citations
,
February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
January 2021 in “International journal of medical science and health research” A patient with sickle cell trait and low vitamin D might have lupus, a rare combination that needs more attention.
1 citations
,
August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
20 citations
,
February 2010 in “Journal of Investigative Dermatology” Slug (Snai2) helps regulate hair growth timing in mice.
8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
1 citations
,
September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
7 citations
,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
2 citations
,
December 2013 in “Journal of dermatology” A specific gene mutation causes a rare hair loss condition in a Chinese patient.
October 2017 in “The Indian Journal of Animal Sciences” The prolactin gene polymorphism doesn't affect cashmere quality in these goats.
May 2023 in “Pharmaceuticals” Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
November 2007 in “Pediatrics in review” A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.
August 2023 in “The American Journal of Medicine” A young woman with lupus was treated with hydroxychloroquine and prednisone.
3 citations
,
October 2020 in “UNC Libraries” The new criteria for classifying lupus are more accurate and comprehensive.
14 citations
,
January 2001 in “Current Treatment Options in Oncology” Treat limited stage small cell lung cancer with chemotherapy and radiation, and consider preventive brain radiation for better survival chances.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
6 citations
,
March 2014 in “Livestock science” Researchers created a genetic library from a cashmere goat's skin and found new genes linked to hair growth.
September 2023 in “Clinical, cosmetic and investigational dermatology” SLFC can improve scalp health and reduce sensitive scalp symptoms.
February 2019 in “Neoreviews” The infant with a urea cycle disorder improved with treatment and a liver transplant.
September 2007 in “The American Journal of Gastroenterology” Recognizing lupus as a cause of severe gut issues is crucial for effective treatment.
1 citations
,
July 2022 in “BMJ Case Reports” A woman was wrongly diagnosed with lupus but actually had leprosy.
July 2025 in “Human Genomics” New LSS gene variants help understand congenital hypotrichosis 14 better.
35 citations
,
August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
September 2024 in “Electronic Journal of General Medicine” Diagnosing Sertoli-Leydig cell tumors is challenging due to their unusual symptoms and can occur at any age.