5 citations
,
January 2022 in “PloS one” Deleting the p63 gene in certain cells causes problems in thymus development and severe hair loss in mice.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
November 2022 in “Gigascience” A specific genetic deletion in goats affects cashmere yield and thickness.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
7 citations
,
January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
3 citations
,
March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
218 citations
,
October 2013 in “Proceedings of the National Academy of Sciences of the United States of America” Mice lacking the PPARγ gene in their fat cells had almost no fat tissue, severe metabolic problems, and abnormal development of other fat-related tissues.
75 citations
,
October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
62 citations
,
August 2014 in “BMC Endocrine Disorders” New findings explain how genetic changes, body clocks, and certain molecules affect tissue response to stress hormones.
27 citations
,
December 2013 in “Endocrinology” Researchers created a mouse model for Cushing's syndrome to study glucocorticoid excess and potential treatments.
6 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
556 citations
,
September 2008 in “Genes & Development” Wnt signaling is vital for cell growth, development, and cancer research.
32 citations
,
June 2013 in “Journal of Investigative Dermatology” Mice without certain skin proteins had abnormal skin and hair development.
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.
53 citations
,
January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
50 citations
,
February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
9 citations
,
January 1975 in “PubMed” Nude mice are hairless due to a shared defect affecting both skin and thymus, not just thymic issues.
February 2020 in “Biophysical journal” Zebrafish with mutations similar to human Cantú Syndrome have heart cells with altered channel properties, making them a good model to study the condition.
September 2016 in “Journal of dermatological science” TSC2 is crucial for proper hair follicle development and patterning.
81 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
25 citations
,
August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
23 citations
,
July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
22 citations
,
February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
15 citations
,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
11 citations
,
January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
8 citations
,
December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
109 citations
,
June 2011 in “Molecular and Cellular Endocrinology” Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.