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.
20 citations
,
July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
8 citations
,
December 2022 in “International journal of molecular sciences” Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.
41 citations
,
March 2016 in “The Journal of Clinical Endocrinology & Metabolism” In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
688 citations
,
June 2007 in “Cell Stem Cell” Removing the ATR gene in adult mice causes rapid aging and stem cell loss.
March 2024 in “Plant physiology” GLABRA 2 controls ethylene production to help root hair growth during nutrient deficiency.
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.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
1 citations
,
September 2018 in “Australasian Journal of Dermatology” A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.
November 2025 in “The Journal of Immunology” BST2 is highly expressed in certain immune cells in alopecia areata, suggesting a role in the disease.
19 citations
,
May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
January 2002 in “Agritrop (Cirad)” The hr gene is linked to hair loss in Valle del Belice sheep.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
101 citations
,
October 2007 in “Journal of Biological Chemistry” Reduced matriptase activity causes skin and hair issues in both humans and mice.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
17 citations
,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
53 citations
,
October 2014 in “Free radical biology & medicine” Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.
158 citations
,
December 2002 in “Development” Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
39 citations
,
January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
1 citations
,
December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
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.
1 citations
,
October 2025 in “Journal of Allergy and Clinical Immunology” A JAK1 variant causes hair loss, skin issues, and thyroid disease, but treatment with a specific inhibitor can help.
13 citations
,
July 2012 in “Pigment Cell & Melanoma Research” A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
44 citations
,
August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
15 citations
,
August 2019 in “F1000Research” CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
188 citations
,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
1 citations
,
September 2017 in “Zhonghua neifenmi daixie zazhi” Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Astrotactin2 affects hair follicle orientation and skin cell polarity.