13 citations
,
November 2012 in “PLoS ONE” A gene mutation in mice causes severe skin disorder similar to a human condition.
15 citations
,
August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
November 2022 in “Journal of Investigative Dermatology” ILC1-like cells can cause alopecia areata by themselves.
13 citations
,
January 2021 in “Scientific Reports” Pannexin 3 helps skin and hair growth by controlling a protein called Epiprofin.
4 citations
,
September 2004 in “Experimental Dermatology” Connexin mutations can cause various diseases like hearing loss and skin disorders.
72 citations
,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
28 citations
,
July 2005 in “Journal of Investigative Dermatology” Sca-1+ cells in newborn mouse skin may become fat cells.
16 citations
,
October 2014 in “Cell death and disease” FoxN1 overexpression in young mice harms immune cell and skin development.
1 citations
,
March 2022 in “Journal of biological chemistry/The Journal of biological chemistry” Removing a specific gene in certain skin cells causes hair loss in mice by disrupting hair follicle development.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
December 2009 in “Cancer Research” Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
January 2004 in “Kölner Universitäts PublikationsServer (Universität zu Köln)” Collagen XVII and CD151 affect cell movement, with CD151 inhibiting migration when bound to integrins.
117 citations
,
August 1999 in “Nature Genetics”
12 citations
,
December 2020 in “Archives animal breeding/Archiv für Tierzucht” EDA and EDAR are important for hair follicle development in cashmere goats and affect other related genes.
5 citations
,
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The gene therapy showed significant wound healing and was safe for treating severe RDEB.
The CD4 protein may play a role in the behavior of certain skin cells, affecting their growth, movement, and differentiation.
April 2023 in “Journal of Investigative Dermatology” LSD1 is essential for healthy skin development and creating the skin's protective barrier.
July 2025 in “Journal of Investigative Dermatology”
January 2025 in “Nature Communications” CPK1 helps root hair growth in Arabidopsis by activating channels for calcium signaling.
7 citations
,
October 2018 in “BMC genomics” Key genes can rewire networks, changing skin appendage types.
43 citations
,
February 2013 in “Developmental dynamics” Foxi3 expression in developing teeth and hair is controlled by the ectodysplasin pathway.
September 2019 in “Journal of Investigative Dermatology” Sox13 is a new marker for early hair follicle development and differentiation.
7 citations
,
May 2022 in “Cancers” UC.145 may be a new biomarker for predicting gastric cancer.
136 citations
,
March 1998 in “Oncogene” Overexpression of E2F1 can lead to skin tumors and disrupt hair growth.
150 citations
,
June 1999 in “Oncogene”
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
132 citations
,
February 2002 in “Journal of Biological Chemistry” HOXC13 is crucial for regulating hair keratin genes in hair follicles.
11 citations
,
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific group of skin stem cells was found to help maintain hair follicle cells.
68 citations
,
August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
13 citations
,
December 2001 in “Journal of Investigative Dermatology” Overexpressing ornithine decarboxylase and v-Ha-ras in keratinocytes leads to invasiveness and malignancy.