26 citations
,
June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
June 2023 in “Journal of biological chemistry/The Journal of biological chemistry” Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.
15 citations
,
July 2015 in “Developmental Dynamics” Orai1 protein is crucial for tooth development and affects enamel thickness and mineralization.
2 citations
,
April 2024 in “Anais Brasileiros de Dermatologia” Pre-existing skin conditions and drug reactions are the main causes of exfoliative erythroderma.
2 citations
,
March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
1 citations
,
September 2025 in “PLoS ONE” Actin and alpha-smooth muscle actin help skin heal in mouse fetuses.
9 citations
,
October 1989 in “Australian Journal of Agricultural Research” Mouse epidermal growth factor temporarily stops wool growth and causes cell changes in Merino sheep.
354 citations
,
February 2011 in “Genes & Development” EZH1 and EZH2 are crucial for healthy hair growth and skin repair.
October 2023 in “Journal of Molecular Liquids” A new method using imidazole-based liquids efficiently extracts keratin from yak hair.
137 citations
,
October 2009 in “The American journal of pathology” Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
11 citations
,
January 1956 in “Journal of Investigative Dermatology” 41 citations
,
February 2005 in “Experimental Cell Research” MAEG helps in mouse hair follicle development by aiding cell adhesion.
1 citations
,
November 2022 in “Indian Journal of Dermatology/Indian journal of dermatology” Dermoscopy helps accurately diagnose and treat benign skin cysts.
109 citations
,
February 2018 in “CB/Current biology” ERULUS controls root hair growth by regulating cell wall composition and pectin activity.
21 citations
,
August 2002 in “British Journal of Ophthalmology” July 2024 in “Journal of Investigative Dermatology” 19 citations
,
February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
June 2023 in “International Journal of Research in Medical Sciences” Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
41 citations
,
January 2015 in “Development” Atoh1 expression can create new Merkel cells in the skin.
6 citations
,
January 2014 in “Clinical hemorheology and microcirculation” Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
5 citations
,
July 2022 in “Genes” Increasing EGR1 levels makes hair root cells grow faster.
August 2019 in “Journal of Investigative Dermatology” The study found that tight junctions reach the top layer of the skin's stratum granulosum, not just the second top layer as previously thought.
15 citations
,
July 2008 in “Journal of Dermatological Science” Ephrin-A3 helps increase and speed up hair growth in baby mice.
3 citations
,
July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
April 2010 in “The journal of immunology/The Journal of immunology” FoxN1 gene is crucial for proper thymus structure and normal skin appearance.
June 2023 in “British Journal of Dermatology” The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
20 citations
,
August 2014 in “PloS one” MED1 affects skin wound healing differently in young and old mice.
11 citations
,
January 2016 in “Molecular and Cellular Neuroscience” Chronic ethanol increases certain brain receptor levels, influenced by steroids and protein changes.
November 2024 in “Communities in ADDI (University of the Basque Country)”