9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
101 citations
,
October 2007 in “Journal of Biological Chemistry” Reduced matriptase activity causes skin and hair issues in both humans and mice.
99 citations
,
October 2008 in “Journal of Investigative Dermatology” Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
1 citations
,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
3 citations
,
September 2017 in “Archives of dermatological research” Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
137 citations
,
October 2009 in “The American journal of pathology” Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
55 citations
,
April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
81 citations
,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
18 citations
,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
43 citations
,
December 2013 in “Seminars in Cell & Developmental Biology” Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
20 citations
,
October 2021 in “PLoS ONE” Newborn skin is uniquely prepared to adapt to new environments compared to adult skin.
March 2024 in “BMC cancer” High levels of ST14 and TMEFF1 proteins in ovarian cancer are linked to worse patient outcomes and may be a new treatment target.
6 citations
,
January 2022 in “BMC Medical Genomics” Different gene mutations cause different types of ichthyosis, with some new mutations found.
66 citations
,
January 2020 in “Acta Dermato Venereologica” New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
41 citations
,
November 2011 in “The Journal of Dermatology” Some hair loss disorders are caused by genetic mutations affecting hair growth.
417 citations
,
September 2005 in “PLoS biology” Understanding gene expression in hair follicles can reveal insights into hair growth and disorders.
50 citations
,
February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
18 citations
,
August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
10 citations
,
November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
2 citations
,
September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
October 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Immune cells are essential for early hair and skin development and healing.
100 citations
,
May 2006 in “American Journal Of Pathology” Matriptase is crucial for skin barrier, hair growth, and may contribute to skin cancer.
5 citations
,
June 2017 in “in Vivo” Vitamin C deficiency changes gene expression, affecting skin and hair health.
24 citations
,
July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
9 citations
,
August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
19 citations
,
March 2017 in “Scientific Reports” HAT-L4 is crucial for preventing body fluid loss by maintaining skin barrier integrity.
25 citations
,
July 2019 in “Experimental Dermatology” Cholesterol balance is important for hair health, and problems with it can lead to hair loss conditions.