Higher TGF-β signaling may increase skin cancer risk in organ transplant recipients.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
50 citations
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September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
36 citations
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October 2000 in “British Journal of Dermatology” A different gene near the hairless gene on chromosome 8p21 causes a rare hair loss condition in a German family.
April 2016 in “Journal of Investigative Dermatology” Decreasing MIG6 can increase the movement and invasiveness of MEK-inhibited mutant NRAS melanoma, particularly when stimulated by EGF.
May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
153 citations
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April 1998 in “Current Biology” The risk of skin tumors becoming malignant depends on the specific skin cell type affected.
56 citations
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January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
CCC1 is essential for pH balance and normal cell function in plants.
May 2022 in “European medical journal” An 11-year-old girl with Trichotillomania developed a large hairball in her stomach, treated with medication, therapy, and family education.
7 citations
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March 2022 in “Scientific reports” Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
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.
40 citations
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September 2004 in “Biomacromolecules” The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
Melatonin shortens the hair growth cycle by increasing PDGFA gene expression.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
July 2022 in “Journal of Investigative Dermatology” A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.
41 citations
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December 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting MED1 in skin cells causes hair loss and skin changes.
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.
11 citations
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January 2015 in “Journal of cellular physiology” HR protein causes abnormal hair cycles by increasing Tgf-β2 and reducing miR-31.
148 citations
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May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
August 2020 in “Pakistan Journal of Zoology” A new mutation in the Hairless gene causes hair loss in two Pakistani families.
21 citations
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February 2006 in “Clinical Cancer Research” Mitf plays a key role in melanoma progression and is linked to disease stage.
July 2010 in “Journal of Investigative Dermatology” Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
412 citations
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January 1998 in “Science” A mutation in the human hairless gene causes alopecia universalis.
January 2024 in “Wiadomości Lekarskie” Pemigatinib may be effective for treating ZMYM2::FGFR1 fusion-positive leukemia.
50 citations
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February 2007 in “The Journal of Pathology” Somatic BHD mutations are rare in Japanese renal tumors.
April 2012 in “Informa Healthcare eBooks” Temporal triangular alopecia is a lifelong condition with hairless patches on the side of the head that may be present from birth.
29 citations
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July 2008 in “British Journal of Dermatology” The patient had paraneoplastic pemphigus without mucosal involvement.
GPC1 is important for blood vessel growth in hair follicles and could help treat hair loss.