April 2020 in “Journal of the Endocrine Society” The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
February 2026 in “Frontiers in Medicine” Trichoscopy can help diagnose early congenital syphilis in newborns.
28 citations
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November 2018 in “Journal of Cellular and Molecular Medicine” CXXC5 is a protein that controls cell growth and healing processes, and changes in its activity can lead to diseases like cancer and hair loss.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Targeting cholesterol, fatty acids, fibrosis, and mast cells may help treat CCCA.
184 citations
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September 2006 in “PLoS Genetics” The Apc gene is crucial for normal skin and thymus development.
20 citations
,
February 2017 in “European journal of pharmaceutical sciences” The MPA-ISO cocrystal improved solubility and dissolution rate, while the others did not.
32 citations
,
November 2016 in “Journal of Dental Research” Pannexin 3 is important for bone formation and the development of bone cells.
1 citations
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January 2022 Autoimmune Polyendocrine Syndromes involve specific combinations of endocrine and non-endocrine autoimmune diseases.
6 citations
,
June 2021 in “Developmental biology” Dermal EZH2 controls skin cell development and hair growth in mice.
4 citations
,
October 2023 in “Children” Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
July 2023 in “New phytologist” The BUZZ gene is important for root hair growth and overall root structure in the plant Brachypodium distachyon.
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
28 citations
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May 2020 in “BMC plant biology” The study concluded that three enzymes are important for plant development by affecting sugar composition and calcium binding in plants.
September 2016 in “Journal of Dermatological Science” Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
September 2017 in “Journal of Investigative Dermatology” The study found that sweat glands normally suppress immune responses, but this is disrupted in certain skin diseases, possibly contributing to their development.
October 2024 in “Indian Journal of Dermatology” Early biopsy is crucial for diagnosing rare skin sarcoidosis, improving treatment.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
April 2017 in “Journal of Investigative Dermatology” The study found a link between the severity of Lichen Planopilaris seen by doctors and the details seen under a microscope, and created a new way to measure this severity.
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
6 citations
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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.
344 citations
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May 2018 in “EMBO journal” Phosphorylation controls TFEB's location in the cell, affecting cell metabolism and stress response.
March 2025 in “Frontiers in Plant Science” The ZmNF-YC1–ZmAPRG pathway in maize improves phosphorus efficiency and grain yield, suggesting it as a target for breeding better crops.
4 citations
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December 2016 in “Blood” A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
UBC13 and UBC22 enzymes are important for plant growth and development in Arabidopsis thaliana.
15 citations
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April 2019 in “Best Practice & Research Clinical Endocrinology & Metabolism” Polycystic Ovary Syndrome (PCOS) in teenagers is a complex condition linked to genetics and environment, often associated with obesity and insulin resistance, and is treated with lifestyle changes and medication.
2 citations
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October 2001 in “Mycoses” A cat had a rare fungal infection caused by Microsporum gypseum.
ARHGEF3 is essential for proper hair follicle development.
76 citations
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January 1998 in “Mammalian Genome” The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.