4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
11 citations
,
May 2008 in “British journal of dermatology/British journal of dermatology, Supplement” Identical p53 gene mutations in different cancers suggest the need for careful treatment.
75 citations
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January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
April 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Sweat gland development involves two unique skin cell programs and a temporary skin environment.
1 citations
,
January 2015 ERK activation spreads between cells, influencing cell division and wound healing.
31 citations
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February 2007 in “Molecular Carcinogenesis” Overexpressing ATF3 in mice's epithelial cells may lead to oral cancer.
1 citations
,
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Melanocyte-associated antigens may play a key role in alopecia areata and could be targets for new treatments.
2 citations
,
July 2021 in “UNC Libraries” Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.
November 2022 in “Journal of Investigative Dermatology” Skin aging and cancer development are influenced by the competition between stem cells.
mEphA1 receptor tyrosine kinase is important for skin and hair development and may play a role in certain diseases.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
8 citations
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January 2022 in “Current topics in developmental biology/Current Topics in Developmental Biology” April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” Neoplasms hide in hair follicles to avoid the immune system.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
22 citations
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April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.
3 citations
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January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
36 citations
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July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
January 2025 in “Dermatology Practical & Conceptual” A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
9 citations
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May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Human melanocytes have unique traits that affect melanoma development and prognosis.
65 citations
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November 2013 in “The EMBO Journal” HDAC1 is crucial for skin development and preventing tumors.
20 citations
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May 2011 in “Journal of Clinical Investigation” The study created a mouse model to mimic degenerative diseases for testing tissue repair and new therapies.
20 citations
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October 2005 in “Archives of Dermatological Research” 18 citations
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July 2024 in “Frontiers in Immunology” Targeting specific molecular pathways may improve treatments for chemoresistant cancers.
13 citations
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May 1993 in “International Journal of Dermatology” The paper suggests that telogen effluvium, a type of hair loss, may be a long-lasting condition triggered by stress or illness in people whose hair growth is unusually synchronized.
March 2026 in “JID Innovations” Aire mutation reduces alopecia areata, while Notch4 mutation prevents it in mice.
24 citations
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November 2023 in “Nature” The extracellular matrix affects where tumors can start in the body.
414 citations
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August 2005 in “Nature” Activating TERT in mice skin boosts hair growth by waking up hair follicle stem cells.