11 citations
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August 2010 in “Developmental neurobiology” Ptprq has multiple forms that change during inner ear development.
4 citations
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January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
15 citations
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April 2011 in “Biological Chemistry” Cathepsin E is crucial for normal skin cell differentiation and development.
April 2017 in “Journal of Investigative Dermatology” Triptolide effectively and safely reduces actinic keratosis lesions in mice.
January 2011 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” New molecules can prevent cell death in hair follicles.
2 citations
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October 2018 in “The journal of pediatrics/The Journal of pediatrics” The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
April 2017 in “Journal of Investigative Dermatology” Reduced Stx17 expression may contribute to Alopecia Areata.
43 citations
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October 2006 in “Journal of Cell Science” Keratin 10 end domains may increase skin cancer risk by reducing cell death.
April 2026 in “Human Genome Variation” Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
6 citations
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June 2012 in “PloS one” A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
12 citations
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September 2018 in “International Journal of Cosmetic Science” Palmitoyl tetrapeptide-20 may help reduce hair greying and increase melanin production.
August 2012 in “Nature Cell Biology” A pathway helps maintain long telomeres in both stem and cancer cells.
13 citations
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August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
April 2020 in “International journal of research in dermatology” An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
17 citations
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April 2011 in “Journal of Dermatological Science” The study created a mouse model that survives longer and shows fewer symptoms of pemphigus vulgaris.
July 2010 in “Journal of Investigative Dermatology” Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
3 citations
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January 2023 in “Science advances” The enzymes Tet2 and Tet3 are important for skin cell development and hair growth.
53 citations
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September 1999 in “The journal of cell biology/The Journal of cell biology” K16 can partially replace K14 but causes hair loss and skin issues.
12 citations
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November 1987 in “Pediatric dermatology” Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
14 citations
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August 2021 in “Molecular Genetics and Metabolism Reports” Pegvaliase effectively reduces blood phenylalanine levels in most PKU patients, but requires personalized plans and good communication to manage side effects.
January 2008 in “Medical Entomology and Zoology” 193 citations
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May 2008 in “Development” Activating β-catenin can turn skin cells into hair follicles.
PmtHEE is a better model for studying pigmented skin because it includes melanocytes and shows improved cell differentiation.
21 citations
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April 2004 in “Australasian Journal of Dermatology” A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
8 citations
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March 2015 in “International Journal of Oncology” Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
17 citations
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September 2010 in “Pediatric dermatology” A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
July 2020 in “European urology open science” Methylated gene parts may cause finasteride-resistance in some enlarged prostate patients.
56 citations
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February 2012 in “Developmental biology” Sostdc1 controls the size and number of hair and mammary gland structures.
40 citations
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December 2010 in “Human Genetics”