84 citations
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September 2008 in “Developmental biology” Retinoic acid-binding proteins in skin are regulated by β-catenin and Notch signalling.
60 citations
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July 2014 in “Autophagy” The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
7 citations
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May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
February 2026 in “The Laryngoscope” Airway issues can occur in Conradi–Hünermann–Happle syndrome and can be managed with minimally invasive procedures.
August 2012 in “Nature Cell Biology” The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.
17 citations
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October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
48 citations
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May 2002 in “Journal of Anatomy” VEGFs increase blood vessel permeability, especially in diseases like cancer and heart disease.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.
5 citations
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January 2022 in “Health Science Reports” Gremlin proteins help regulate hair growth by balancing signals in hair follicles.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” VHL disease can cause early paragangliomas, needing lifelong monitoring.
176 citations
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February 2006 in “Cancer Research” Patched1 helps prevent tumors by controlling cell growth.
24 citations
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February 2011 in “The American journal of pathology” AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.
April 2017 in “Journal of dermatological science” Removing PLCg1 from skin cells caused thicker oil glands and less hair in mice.
11 citations
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September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Removing Mediator 1 causes teeth cells to turn into hair cells.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
9 citations
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January 2018 in “Acta dermato-venereologica” A substance called poly(I:C) increases a protein called carbonic anhydrase II in skin cells, which might help with skin defense and healing.
18 citations
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February 2017 in “Molecular Medicine Reports” Activating Notch signaling can kill basal cell carcinoma cells.
8 citations
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March 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” The 14-3-3σ gene is essential for preventing hair loss.
2 citations
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June 2003 in “American Journal of Dermatopathology” A unique case of skin cancer showed unusual calcification, possibly linked to calcium-binding proteins.
40 citations
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December 2012 in “PLoS ONE” Removing Ctip2 in skin cells causes skin inflammation similar to atopic dermatitis.
6 citations
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August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
GPC1 is important for blood vessel growth in hair follicles and could help treat hair loss.
6 citations
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July 2011 in “British Journal of Dermatology” A man with KID syndrome developed a rare cancer in a long-term skin infection.
April 2018 in “Journal of Investigative Dermatology” STIM1 is essential for sweat secretion.
6 citations
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January 1985 in “ACTA HISTOCHEMICA ET CYTOCHEMICA” Tumor cells in calcifying epithelioma of Malherbe resemble hair follicle cells.
August 2004 in “Journal of the American College of Surgeons” Several genes, including Hox-7A, Stra6, and Lim-1, are involved in normal palate formation.
18 citations
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February 1992 in “Molecular Biology Reports” A specific type II hair keratin was identified and found in hair cortex and tongue cells.
GPC1 is important for blood vessel growth in hair follicles and could help treat hair loss.