April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
January 2017 in “Clinical & medical biochemistry” Certain gene variations in AKT2 are more common in women with PCOS and are linked to higher levels of specific hormones and symptoms.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
January 2012 in “Methods in pharmacology and toxicology” Hair follicle culture helps study hair growth but has limitations in modeling the full hair cycle.
March 2009 in “Prenatal Diagnosis” Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
June 1996 in “Irish Journal of Medical Science (1971 -)” The document summarizes medical findings on topics like heart rhythm treatment, sleep apnea therapy, and various health conditions and treatments.
August 2002 in “Zeitschrift für Hautkrankheiten” Female pattern hair loss affects crown, increases with age, and has limited treatments.
27 citations,
November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
3 citations,
April 2022 in “Biomolecules” Higher miR-34a levels and the A variant of the MIR-34A gene are linked to increased risk and severity of alopecia areata.
3 citations,
January 2020 in “International journal of trichology” Congenital triangular alopecia is a hair loss condition present from birth or early childhood with no effective treatment needed.
2 citations,
January 2022 in “Journal of Investigative Dermatology” Hedgehog signaling in skin cells is crucial for hair growth and skin healing, but needs to be balanced to avoid harmful effects like scarring and cancer.
August 2022 in “Journal of Comprehensive Pediatrics” A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
139 citations,
September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
132 citations,
August 2008 in “Development” Dlx3 is essential for hair growth and regeneration.
96 citations,
December 2018 in “Immunity” Targeting TGFβ can improve skin immunity in older people.
81 citations,
September 2009 in “Birth defects research” Different body areas in mice produce different hair types due to interactions between skin layers.
73 citations,
December 2015 in “Nature Genetics” Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
70 citations,
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.
49 citations,
January 2006 in “Developmental Dynamics” Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
38 citations,
November 2020 in “International journal of biochemistry & cell biology” Keratin proteins are essential for keeping the cells in the human colon healthy and stable.
31 citations,
September 2012 in “Journal of biological chemistry/The Journal of biological chemistry” The right amount of retinoic acid is essential for normal hair growth and development.
28 citations,
December 2015 in “Journal of biological chemistry/The Journal of biological chemistry” Prostasin has two roles in skin: one for normal skin development without needing activation, and another for proper hair growth that requires activation.
21 citations,
July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
19 citations,
July 2020 in “EBioMedicine” A gene variant increases the risk of a type of hair loss by affecting hair protein production.
16 citations,
September 2019 in “Journal of biological chemistry/The Journal of biological chemistry” Mice without certain skin enzymes have faster hair growth and bigger eye glands.
15 citations,
February 2014 in “PloS one” LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.
12 citations,
May 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Laminin 332 is essential for normal skin cell behavior and structure.
10 citations,
July 2022 in “Dermatology and Therapy” Melasma's causes include genetics, sun exposure, hormones, and oxidative stress, and understanding these can help create better treatments.
10 citations,
October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.
8 citations,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.