1 citations
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April 2023 in “Frontiers in Genetics” The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
75 citations
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October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
10 citations
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December 2021 in “Frontiers in Cell and Developmental Biology” BBS7 is essential for healthy gums by supporting cell function and blood flow.
February 1989 in “PubMed” A genetic hair protein variant is more common in Japanese people and is inherited.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” BBS7 is crucial for maintaining healthy periodontal ligaments by supporting Shh signaling.
February 2014 in “Revista Argentina de Cardiología” Androgens may increase arrhythmias in Brugada Syndrome, while Finasteride could reduce them.
48 citations
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June 2014 in “Neurobiology of Disease” The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
3 citations
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April 2023 in “Frontiers in Pharmacology” ATP-sensitive K+ channel subunits, particularly Sur2A, play a significant role in various cancers.
2 citations
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October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
2 citations
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September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
70 citations
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February 2016 in “EMBO reports” Scientists found a specific group of itch-sensing nerve cells in mice important for feeling itch but not for sensing heat or touch.
April 2023 in “Journal of Investigative Dermatology” People with all types of psoriasis are more likely to have autoimmune diseases than those without psoriasis.
32 citations
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August 2016 in “Science Signaling” Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
2 citations
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September 2017 in “Journal of Investigative Dermatology” Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
92 citations
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January 2012 in “International Journal of Biological Sciences” The document introduced a new naming system for keratin-associated proteins to improve clarity and communication across species.
4 citations
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August 2018 in “Journal of pediatric neurology” Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
8 citations
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January 2012 in “Dermatology Research and Practice” New subcision technique with a bent needle and syringe improves ease, effectiveness, and comfort for treating acne scars.
November 2025 in “Journal of the European Academy of Dermatology and Venereology” Different types of hidradenitis suppurativa need specific treatments based on unique skin cell issues.
January 2019 in “Publisher” Human basal cell carcinomas and squamous cell carcinomas have unique gene expression patterns not fully mirrored in mouse models.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Tfap2b is essential for creating a type of stem cell in zebrafish that can become different pigment cells.
8 citations
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July 2024 in “PLoS ONE” Botryococcus braunii's three chemical races should be reclassified as separate species.
2 citations
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August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
62 citations
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January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
31 citations
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November 1991 in “Brain Research” Aδ-LTMRs have complex synapses with glycine, while Aβ-LTMRs have simpler ones.
12 citations
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
4 citations
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May 1998 in “PubMed” The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.