441 citations
,
May 1996 in “Journal of Cell Science” Keratin 19 helps identify skin stem cells, with its presence varying by body location, age, and culture stage.
5 citations
,
May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
6 citations
,
March 2007 in “BioTechniques” PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
14 citations
,
September 1999 in “Mammalian genome” The scraggly mutation causes hair loss and skin defects in mice.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
43 citations
,
August 1994 in “Journal of Investigative Dermatology” Certain genetic markers on chromosome 20 are linked to hair loss in the Han Chinese from Yunnan.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
1 citations
,
June 2011 in “Journal of Genetics” Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
January 2026 in “Cytokine” 4 citations
,
December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
5 citations
,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
51 citations
,
December 2006 in “Mammalian Genome”
78 citations
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August 2012 in “Human molecular genetics online/Human molecular genetics” A new gene, JMJD1C, may affect testosterone levels in men.
March 2026 in “World Rabbit Science” DKK4 can be used to improve wool quality in Zhexi Angora rabbits.
3 citations
,
June 2017 in “Reproductive biomedicine online” A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
1 citations
,
September 2019 in “Steroids” Two new mutations in the AR gene linked to severe androgen insensitivity were found.
October 2021 in “Postepy Dermatologii I Alergologii” No significant link was found between the studied genes and female hair loss in the Polish population.
53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
238 citations
,
May 1989 in “Journal of Investigative Dermatology” 7 citations
,
January 2021 in “Frontiers in genetics” Inherited color dilution in rabbits is linked to DNA methylation changes.
February 2026 in “Applied Biosciences” The study found potential new DNA patterns in fertility genes, but further testing is needed.
4 citations
,
September 2010 in “Journal of Dermatological Science” A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
7 citations
,
January 2019 in “Australasian Journal of Dermatology” A genetic marker linked to a type of hair loss was found in most patients studied.
2 citations
,
October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.