April 2024 in “Journal of cosmetic dermatology” Aging changes the red part of lips, affecting life quality and sparking cosmetic interest.
56 citations
,
July 2004 in “Mechanisms of Development” Pax9 is crucial for proper tongue surface development and preventing skin-like changes.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
76 citations
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June 2008 in “Journal of the American Academy of Dermatology” The conclusion is that certain scalp tissue changes are characteristic of lichen planopilaris, with mucinous perifollicular fibroplasia being a new feature for diagnosis.
April 2008 in “Expert review of dermatology” Mutations in the P2RY5 gene cause hereditary woolly hair.
4 citations
,
August 2006 in “The Journal of Dermatology” HLA can be linked to autoimmune hepatitis.
1 citations
,
August 2015 in “AACE Clinical Case Reports” A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
3 citations
,
May 2013 in “PubMed” Research on Hutchinson-Gilford progeria syndrome could help understand normal aging and heart disease.
1 citations
,
February 2009 in “Clinical and Experimental Dermatology” Hormone-replacement therapy improved a woman's skin condition known as lymphomatoid papulosis.
May 2024 in “International journal of medicine and psychology.” Monoclonal antibodies LT-1, LT-2, and LT-7 help diagnose certain blood cancers.
September 2025 in “Genes & Diseases” Lgr6+ cells are important for tissue repair and could be a target for treating cancer and other diseases.
1 citations
,
January 2024 in “Clinical Cosmetic and Investigational Dermatology” Recognizing and treating oral lichen sclerosus is important, but treatment guidelines are lacking.
6 citations
,
January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
1 citations
,
October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing HIF-P4H-2 from certain skin cells in mice causes hair loss on the body but not the head.
50 citations
,
September 2014 in “Stem cell reports” BLIMP1 is essential for skin maintenance but not for defining sebaceous gland progenitors.
6 citations
,
November 2008 in “Journal of Dermatological Science” Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.
5 citations
,
June 2015 in “The Journal of Dermatology” HTLV-1-associated lichenoid dermatitis (HALD) is linked to an immune response against HTLV-1-infected cells.
4 citations
,
May 2024 in “Cytotechnology” 36 citations
,
January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
2 citations
,
January 1997 in “Leprosy Review” A neglected leprosy treatment led to rare scalp hair loss in an Indian woman, which improved with proper medication.
44 citations
,
January 2004 in “American journal of clinical dermatology” Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
June 2013 in “International Journal of Dermatology” Central lipohypertrophy in HIV-infected women may lead to shorter eyelashes.
February 2023 in “Cosmoderma” An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
333 citations
,
March 2000 in “Proceedings of the National Academy of Sciences” Overexpressing GLI-1 in mice skin can cause tumors like human basal cell carcinomas.
January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
4 citations
,
December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
January 2016 in “Memorial University Research Repository (Memorial University)” Hereditary hyperplastic gingivitis in silver foxes may be linked to errors in the MAPK signaling pathway, influenced by androgens.
15 citations
,
January 1991 in “Mammalian Genome”