232 citations
,
January 2002 in “Mechanisms of development” Different enzymes are active in different parts of developing mouse organs.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
166 citations
,
November 2008 in “Expert Review of Endocrinology & Metabolism” Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
11 citations
,
May 2011 in “The Journal of Dermatology” A man had two rare autoimmune diseases that might be connected.
1 citations
,
April 2010 in “Digital WPI” CLK1 is needed for skin cells to become epidermal cells but not sebocytes.
221 citations
,
July 2012 in “Proceedings of the National Academy of Sciences of the United States of America” BMAL1 controls skin cell growth and UV damage risk, peaking at night.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
29 citations
,
June 2010 in “The Journal of Dermatology” Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
3 citations
,
February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.
81 citations
,
March 1985 in “Journal of Clinical Investigation” Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
April 2023 in “Journal of Investigative Dermatology” Proper cell death regulation is crucial for normal hair follicle regeneration and skin remodeling.
12 citations
,
September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
9 citations
,
November 2021 in “Frontiers in Cell and Developmental Biology” PBX1 helps reduce aging and cell death in hair follicle stem cells by decreasing DNA damage, not by improving DNA repair.
January 2024 in “Theranostics” HDAC6 helps keep ovarian follicles dormant, extending female fertility.
Higher PD-1 levels mean fewer CD8+ T cells in alopecia areata hair follicles.
January 2024 in “Wiadomości Lekarskie” DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.
34 citations
,
September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
2 citations
,
July 2025 in “Chemical Engineering Journal” The hydrogel dressing effectively treats infected wounds by combining infection control and tissue regeneration.
35 citations
,
April 2008 in “Journal of Biological Chemistry” Hirosaki hairless rats lack hair due to missing DNA with key keratin genes.
199 citations
,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
7 citations
,
April 2004 in “International Journal of Dermatology” The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
October 2023 in “Indian dermatology online journal” The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
28 citations
,
February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
3 citations
,
September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
354 citations
,
August 1991 in “Molecular Endocrinology” Human adrenals and gonads have a unique enzyme for steroid hormone production.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.