11 citations
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January 1989 Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
64 citations
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November 2012 in “EMBO reports” Lamins are vital for cell survival, organ development, and preventing premature aging.
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.
10 citations
,
October 2016 in “Monoclonal antibodies in immunodiagnosis and immunotherapy” Researchers created specific antibodies that detect a protein important in development and various conditions, and can be used for research and diagnosis.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
August 2025 in “JURNAL PEMBELAJARAN DAN BIOLOGI NUKLEUS” Alopecia in bats is more common in urban areas due to habitat conditions.
4 citations
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July 2012 in “Genesis” The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
13 citations
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August 1985 in “The Journal of Dermatology” HKN-2 antibody targets specific skin and hair cells, showing keratin complexity.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
January 2025 in “Genetics in Medicine Open” Biotinidase deficiency can mimic neuromyelitis optica and should be considered for accurate diagnosis and treatment.
29 citations
,
January 2003 in “Dermatology” The condition called 'acute diffuse and total alopecia of the female scalp' is actually a known condition named alopecia areata incognita.
July 2022 in “Journal of Investigative Dermatology” TRPS1 loss in balding scalp areas contributes to hair loss in androgenic alopecia.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
19 citations
,
January 2014 in “International Journal of Medical Sciences” Abnormal activation of hair follicle stem cells and Wnt/β-catenin signaling contributes to sebaceous neoplasms.
April 2018 in “Journal of Investigative Dermatology” The conclusion introduces a new way to classify skin cysts using their shape and genetic markers.
31 citations
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October 2018 in “Frontiers in Cell and Developmental Biology” The conclusion is that CD90 is not a specific marker for fibroblast subtypes and better methods are needed to identify them.
5 citations
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March 2019 in “Journal of lipid research” New probes were created to effectively measure specific enzymes involved in fat metabolism, which could help develop new drugs.
76 citations
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February 1993 in “Journal of Biological Chemistry” KAP6 genes are conserved across species and active in hair follicles.
January 2008 in “The Year book of endocrinology” Gene variant linked to prostate cancer, hormone levels, and hair loss.
A KRT32 gene variant causes loose anagen hair syndrome.
January 2024 in “JCEM case reports” This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
A 5 cm hair sample can reveal blood type and keratin type for forensic use.
September 2017 in “Journal of Investigative Dermatology” Finasteride helps female-pattern hair loss.
July 2026 in “Journal of Ovarian Research” The study identified diverse cell types and gene expressions in ovarian steroid cell tumors, improving understanding of this rare tumor.
16 citations
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September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
11 citations
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August 2014 in “PLoS ONE” GFRα2 is essential for controlling neuron size but not for target innervation in certain sensory neurons.
22 citations
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December 2020 in “mSphere” A fungal enzyme was used to make compounds more soluble, aiding drug discovery and crop protection.
13 citations
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November 2017 in “Neurotoxicity research/Neurotoxicity resarch” Sodium metabisulfite increases sodium channel activity, leading to higher cell excitability and potential damage.
August 2025 in “Scientific Reports” C4BPA protein may link acne severity and insulin resistance.