3 citations
,
February 2022 in “Frontiers in cell and developmental biology” A specific RNA molecule, circCOL1A1, affects the growth and quality of goat hair by interacting with miR-149-5p and influencing cell growth pathways.
14 citations
,
September 1999 in “Journal of Investigative Dermatology” Lack of TrkC receptor delays hair follicle development.
26 citations
,
September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
57 citations
,
August 1997 in “Pediatrics International” VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
7 citations
,
February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing MCPIP1 from myeloid cells in mice leads to hair loss and prevents skin tumors but causes pigmented spots.
11 citations
,
January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
78 citations
,
May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
14 citations
,
March 2016 in “Mechanisms of Development” Basonuclin 2 is vital for the development of facial bones, hair follicles, and male germ cells in adult mice, and its absence can lead to dwarfism and abnormal follicles.
18 citations
,
February 2010 in “Odontology” The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
165 citations
,
January 2006 in “Molecular Medicine” Matriptase is crucial for skin, hair, and immune cell health, and its imbalance can lead to cancer.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
February 2026 in “Oncology Reviews” Sacituzumab tirumotecan shows promise in treating breast cancer with manageable side effects.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
50 citations
,
December 2005 in “European Journal of Immunology” RXRα is crucial for proper immune response and links diet to immune function.
57 citations
,
January 1987 in “Journal of Biological Chemistry” Different keratins have unique expression patterns in mouse skin cells.
52 citations
,
October 1999 in “Developmental Dynamics” Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
10 citations
,
November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
14 citations
,
February 2022 in “The Journal of clinical investigation/The journal of clinical investigation” Scientists made a mouse model of a serious skin cancer by changing skin cells with a virus and a specific gene, which is similar to the disease in humans.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Not having enough cystatin M/E protein causes less hair growth and dry skin.
10 citations
,
July 2021 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” LRIG1 is linked to better survival in Merkel cell carcinoma.
30 citations
,
June 2021 in “British Journal of Dermatology” Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
CCC1 is essential for ion balance and proper plant cell function.
November 2025 in “Journal of Investigative Dermatology” BTNL2 helps protect hair follicles from immune attacks.
September 2023 in “Journal of the American Academy of Dermatology” Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Esrp1 is important for skin health by helping form and maintain the skin barrier.
August 2012 in “Nature Cell Biology” The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.
January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.