January 2024 in “Biomedicines” The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
1 citations
,
October 2025 in “Journal of Dermatological Treatment” Dupilumab improves eczema in Netherton Syndrome but not ichthyosis linearis circumflexa.
152 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
98 citations
,
February 2010 in “Dermatology Online Journal” Vitamin D may help treat hair disorders.
55 citations
,
November 2010 in “Journal of Allergy and Clinical Immunology” The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
33 citations
,
September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
30 citations
,
October 2009 in “Journal of Veterinary Internal Medicine” A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.
29 citations
,
March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
22 citations
,
July 2016 in “Cellular and Molecular Life Sciences” Genetic changes in mice help understand skin and hair disorders, aiding treatment development for acne and hair loss.
16 citations
,
July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
10 citations
,
November 2008 in “Veterinary Dermatology” The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
8 citations
,
January 2017 in “Journal of Biological Chemistry” Astrotactin-2 is cleaved in a specific way that helps understand its maturation.
4 citations
,
March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21, near the hairless gene.
105 citations
,
October 2017 in “Stem cells” Wnt signaling is crucial for skin development and hair growth.
98 citations
,
March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
46 citations
,
September 2023 in “Cell Reports” Sebaceous glands can regenerate after injury using stem cells from hair follicles.
27 citations
,
November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
25 citations
,
February 2025 in “Frontiers in Bioengineering and Biotechnology” New skin repair methods show promise but need to be safer and more accessible.
6 citations
,
September 2024 in “Current Oncology” Sacituzumab Govitecan is effective for certain breast cancers but requires careful management of side effects.
1 citations
,
January 2024 in “Animal Research and One Health” Mouse models are essential for studying and improving genetic traits in agriculture.
March 2026 in “Preprints.org” The combined stem cell secretome in the skin care product effectively reduces inflammation and promotes tissue regeneration.
Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
July 2023 in “Biomolecules” The circadian clock plays a key role in hair growth and its disruption can affect hair regeneration.
73 citations
,
April 1999 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Vitamin D receptor is crucial for bone health and mineral metabolism.
169 citations
,
June 1998 in “Journal of Investigative Dermatology” Male pattern baldness is likely caused by multiple genes, not just 5α-reductase genes.
101 citations
,
March 2019 in “Cell Stem Cell” Certain immune cells in the skin release a protein that stops hair growth by keeping hair stem cells inactive.
23 citations
,
February 2015 in “The American journal of pathology” Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
5 citations
,
January 2020 in “Bioscience Reports” Certain changes in the VEGF gene can increase or decrease the risk of polycystic ovary syndrome.
Defective protein folding due to a mutation is key in ANE syndrome.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.