32 citations
,
August 2020 in “American Journal Of Pathology” S100A4 promotes aggressive ovarian cancer and is a potential treatment target.
30 citations
,
July 2023 in “Journal of Cutaneous Medicine and Surgery” Understanding sex and gender differences can improve personalized dermatology care.
29 citations
,
January 2021 in “G3 Genes Genomes Genetics” A 195 bp duplication in the HOXC10 gene causes crests in domestic chickens.
29 citations
,
January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
26 citations
,
June 2024 in “Frontiers in Immunology” SOCS1 and SOCS3 help control skin inflammation and are important for developing treatments for skin diseases.
26 citations
,
July 2019 in “Dermatology and Therapy” The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
26 citations
,
January 2011 in “Open Journal of Genetics” The KAP13-3 gene in sheep affects wool quality by influencing keratin assembly.
25 citations
,
March 2021 in “Australasian Journal of Dermatology” Ustekinumab successfully treated a man's resistant skin condition when other treatments failed.
25 citations
,
July 2015 in “EMBO Reports” Tmem50b and 2610305D13Rik genes play key roles in early mouse embryo development.
24 citations
,
August 2022 in “Immunity” Type 2 immunity helps control mite growth in hair follicles, preventing damage.
23 citations
,
December 2021 in “Frontiers in Immunology” IL-1 family cytokines are crucial for skin defense and healing, but their imbalance can cause skin diseases.
23 citations
,
March 2017 in “JAAD case reports” The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
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.
21 citations
,
January 2022 in “Pharmaceutics” Colchicine might help treat different skin diseases, but more research is needed to confirm its effectiveness and safe dosage.
21 citations
,
January 2021 in “Frontiers in Pharmacology” Thiopurines help treat IBD but require genetic testing to avoid side effects.
21 citations
,
September 2019 in “Journal of the American Academy of Dermatology” Ixekizumab effectively treats generalized pustular psoriasis.
19 citations
,
May 2016 in “Matrix Biology” Deleting a specific protein in skin cells disrupts normal hair growth and development.
18 citations
,
October 2021 in “Frontiers in Physiology” Lipocalin-Type Prostaglandin D2 Synthase (L-PGDS) is a protein that plays many roles in the body, including sleep regulation, pain management, food intake, and protection against harmful substances. It also affects fat metabolism, glucose intolerance, cell maturation, and is involved in various diseases like diabetes, cancer, and arthritis. It can influence sex organ development and embryonic cell differentiation, and its levels can be used as a diagnostic marker for certain conditions.
18 citations
,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
17 citations
,
July 2024 in “Frontiers in Oncology” New therapies and trials are needed for Merkel cell carcinoma, a tough skin cancer.
17 citations
,
May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
16 citations
,
August 2021 in “Tumor Biology” TMPRSS2 helps viruses enter cells and protects the prostate from inflammation-related cancer.
16 citations
,
September 2019 in “Journal of biological chemistry/The Journal of biological chemistry” Mice without certain skin enzymes have faster hair growth and bigger eye glands.
15 citations
,
April 2024 in “Animals” Inner Mongolia cashmere goats have the lowest inbreeding, aiding future breeding and conservation.
15 citations
,
April 2017 in “Hormones” Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
15 citations
,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
15 citations
,
September 2002 in “Journal of Biological Chemistry” Abnormal keratin expression in mice causes severe oral issues, affecting feeding.
14 citations
,
May 2022 in “Cell Reports” Basal cell carcinomas need extra mutations to grow from small to large tumors.
14 citations
,
March 2022 in “Clinical Endocrinology” The document concludes that a systematic approach is crucial to identify causes of androgen excess in women beyond the most common cause, Polycystic ovary syndrome (PCOS).
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.