February 2026 in “Journal of Chittagong Medical College Teachers Association” A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
15 citations
,
January 1991 in “Mammalian Genome” 14 citations
,
June 2024 in “Clinical Reviews in Allergy & Immunology” People with Down syndrome have a higher risk of autoimmune diseases, so early detection and care are important.
52 citations
,
April 2013 in “Developmental Cell” Brg1 is crucial for hair growth and skin repair by maintaining stem cells and promoting regeneration.
November 2023 in “Journal of animal science/Journal of animal science ... and ASAS reference compendium” SLICK cattle have better heat tolerance due to specific gene expression and pathway differences.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
91 citations
,
December 2019 in “The EMBO Journal” NEDD4 and NEDD4L help control intestinal stem cells and prevent tumors by breaking down the LGR5 receptor.
68 citations
,
December 2011 in “Journal of Investigative Dermatology” Sox2-positive dermal papilla cells have unique characteristics and contribute more to skin and hair follicle formation than Sox2-negative cells.
3 citations
,
April 2015 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” Certain genetic markers on the Y-chromosome may influence prostate cancer risk in Iraqi males.
15 citations
,
November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” BBS7 is crucial for maintaining healthy periodontal ligaments by supporting Shh signaling.
44 citations
,
September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
36 citations
,
July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
May 2021 in “Journal of the Endocrine Society” A woman's hair loss and other symptoms were due to a rare hormone deficiency treatable with steroids.
13 citations
,
July 2020 in “Stem Cell Research & Therapy” Young donor, early passage stem cells have the highest stemness.
October 2022 in “The Korean Journal of Physiology and Pharmacology” Targeting the PGD2-DP2 pathway may help treat hair loss.
Par3–mInsc and Gαi3 work together to ensure proper cell division orientation in skin development.
18 citations
,
January 2021 in “Theranostics” The targeted nanohybrids effectively reduced psoriasis symptoms and improved skin health.
September 2025 in “PeerJ” FCER1A and RGS1 may help diagnose and treat systemic lupus erythematosus.
May 2022 in “The FASEB Journal” Finasteride may help treat Neutrophil Actin Dysfunction by reducing LSP1 gene activity.
November 2022 in “Journal of Investigative Dermatology” The research found specific genes that are more active in balding cells, which could be causing hair loss.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
January 2015 in “DSpace@MIT (Massachusetts Institute of Technology)” PHGDH promotes cancer growth by aiding cell proliferation and tumor progression.
January 2016 in “ISBN: 978-84-608-9184-0” 2 citations
,
July 2021 in “UNC Libraries” Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
4 citations
,
May 2025 in “npj Parkinson s Disease” PINK1 is important for controlling gut immune responses linked to early Parkinson's disease.
October 2018 in “The American Journal of Gastroenterology” Late dumping syndrome after fundoplication can be diagnosed with an oral glucose tolerance test and managed with diet changes.
July 2025 in “Journal of Investigative Dermatology” Androgens reduce THY1 in skin cells, leading to less fat, more fibrosis, and worse healing in males.