5 citations,
October 2015 in “The American journal of pathology” Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
69 citations,
January 2013 in “Frontiers in Immunology” The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
1 citations,
November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
March 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Minoxidil treatment improves heart defects in a DiGeorge syndrome model.
81 citations,
February 2016 in “Veterinary pathology” Progeroid mouse models show signs of early aging similar to humans, helping us understand aging better.
13 citations,
January 2019 in “Endocrine journal” Dihydrotestosterone treatment can help penis growth in boys with 5α-reductase deficiency but doesn't fully normalize size after puberty.
40 citations,
March 2019 in “Nature Communications” CRAC channels are crucial for the development and function of specialized immune cells, preventing severe inflammation and autoimmune diseases.
30 citations,
April 2010 in “Cell Cycle” The gene p53 is crucial for removing damaged cells to allow for healthy tissue renewal.
15 citations,
May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
1 citations,
January 2014 in “Elsevier eBooks” Melanocytes produce melanin; their defects cause vitiligo and hair graying, with treatments available for vitiligo.
March 2022 in “Journal of South Asian Association of Pediatric Dentistry” Dentists should start preventive treatments early for children with Ichthyosis Vulgaris to avoid dental problems.
September 2021 in “Research Square (Research Square)” Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
1066 citations,
March 2010 in “Nature Reviews Molecular Cell Biology” MicroRNAs are crucial in controlling cell signaling, affecting cancer and tissue regeneration.
610 citations,
April 2014 in “Nature Reviews Immunology” The document concludes that understanding how the skin's immune system and inflammation work is complex and requires more research to improve treatments for skin diseases.
291 citations,
April 2010 in “Gastroenterology” Certain proteins, Lgr5 and Lgr6, are important markers of adult stem cells and are involved in tissue repair and cancer development.
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.
179 citations,
July 2016 in “Nature Reviews Molecular Cell Biology” Epigenetic changes control how adult stem cells work and can lead to diseases like cancer if they go wrong.
165 citations,
September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
137 citations,
October 2009 in “The American journal of pathology” Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
111 citations,
January 2007 in “Seminars in cell & developmental biology” Hair, teeth, and mammary glands develop similarly at first but use different genes later.
102 citations,
August 2008 in “Genes & Development” Laminin-511 is crucial for early hair growth and maintaining important hair development signals.
87 citations,
July 2018 in “Biochimica et Biophysica Acta (BBA) - Molecular Cell Research” Mice studies show that Protein Phosphatase 2A is crucial for cell growth, development, and disease prevention.
69 citations,
June 2017 in “Experimental Biology and Medicine” Advanced human skin models improve drug development and could replace animal testing.
65 citations,
March 2018 in “Journal of Dermatological Science” Skin problems can be caused or worsened by physical forces and pressure on the skin.
53 citations,
August 2019 in “American journal of human genetics” FOXN1 gene variants cause low T cells and immune issues from birth.
25 citations,
May 2016 in “Progress in Biophysics & Molecular Biology” R-spondins and their receptors help increase bone growth and may be used to treat bone loss diseases.
21 citations,
November 2010 in “Journal of molecular medicine” FoxN1 gene is essential for proper thymus structure and preventing hair loss.
17 citations,
June 2019 in “The journal of immunology/The Journal of immunology” A specific DNA region is crucial for Foxn1 gene expression in thymus cells but not in hair follicles.
16 citations,
March 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The Notch signaling pathway helps in mouse hair development through a noncanonical mechanism that does not rely on RBPj or transcription.
14 citations,
February 2018 in “Psychoneuroendocrinology” Mice lacking steroid 5α-reductase 2 show less aggression and better impulse control.