59 citations
,
May 2017 in “Scientific reports” ZDHHC13 is important for normal liver function and metabolism, affecting mitochondrial activity.
12 citations
,
August 2011 in “Asian-Australasian Journal of Animal Sciences” KAP8.1 gene variations affect cashmere weight in Inner Mongolian goats.
August 2019 in “Carolina Digital Repository (University of North Carolina at Chapel Hill)” DHT enhances androgen receptor activity more than testosterone, and MAGE-11 influences this activity through specific interactions.
January 2020 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” Polycomb Repressive Complex 1 is crucial for keeping stem cells stable and maintaining healthy adult tissues.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Actin filaments help stabilize and integrate cell membranes during transfer.
14 citations
,
January 2012 in “Proteins” Electrostatic interactions mainly stabilize the binding of peptides to hair keratin.
157 citations
,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
May 2025 in “Clinical Proteomics” Key proteins and potential drugs for treating alopecia areata were identified.
Understanding genetics is crucial for treating heart and skin diseases.
6 citations
,
June 2016 in “Journal of cellular biochemistry” The Hr protein binds to DNA, interacts with p53, and affects cell cycle genes.
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.
35 citations
,
August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
November 2023 in “BMC genomics” The study concluded that the arachidonic acid pathway and the protein KRT79 play a role in determining the fineness of cashmere.
57 citations
,
August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
January 2017 in “Qucosa (Saxon State and University Library Dresden)” Plasma protein binding significantly affects glucocorticosteroid concentration in blood, saliva, and hair.
70 citations
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December 2004 in “Proceedings of the National Academy of Sciences” BMP signaling affects hair color by interacting with the MC-1R pathway.
6 citations
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December 2018 in “International Journal of Cosmetic Science” CARB is a strong barrier in human hair that prevents dye penetration.
2 citations
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October 2023 in “Philosophical Transactions of the Royal Society B Biological Sciences” Different PADI isoforms help cells develop diverse functions.
87 citations
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September 2006 in “Clinical Cancer Research” Protein Kinase C shows promise for cancer treatment, but more research is needed to develop effective inhibitors.
9 citations
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April 2019 in “International Journal of Molecular Sciences” Kojyl cinnamate ester derivatives can promote hair growth by increasing adiponectin production in fat tissues.
1 citations
,
June 2015 in “Australasian Journal of Dermatology” A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
33 citations
,
September 1990 in “Proceedings of the National Academy of Sciences” The study showed that a specific DNA sequence can control gene expression in hair growth areas of mice.
June 2020 in “Journal of Investigative Dermatology” Hair shaft malformation contributes to Central Centrifugal Cicatricial Alopecia.
45 citations
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March 1997 in “Journal of Investigative Dermatology”
5 citations
,
January 2018 The conclusion is that a new test was created to find substances that affect specific ion channels, and it works well for drug discovery.
This case report describes a 72-year-old woman with obstructive sleep apnea syndrome (OSAS) linked to a novel genetic variant, c.980_984dup, in the COL1A2 gene, marking the first documented instance of hereditary OSAS due to this mutation. The patient, who had a history of insomnia and other medical issues such as joint hypermobility and hair loss, showed improvement with nocturnal active positive airway pressure treatment. Her son also developed OSAS, prompting genetic testing that identified the COL1A2 mutation. This finding suggests that OSAS can be hereditary and associated with connective tissue disorders, highlighting the importance of genetic testing in patients with a family history of OSAS.
Excluding alopecia and mucous membrane components from the CLASI-A score reduces its effectiveness in capturing important disease activity.
August 2023 in “Gastroenterology” A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
4 citations
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October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
January 2023 in “Annals of Dermatology” Patients with a specific genetic variant have more severe alopecia areata and higher recurrence rates.