March 2024 in “Research Square (Research Square)” Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
January 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Ascl4 is not necessary for the development of hair, teeth, or mammary glands.
January 2024 in “Oxford medical case reports” Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
January 2024 in “Theranostics” HDAC6 helps keep ovarian follicles dormant, extending female fertility.
December 2023 in “Revista Urología Colombiana / Colombian Urology Journal” More research is needed to find effective treatments for sickle cell disease-related priapism.
November 2023 in “Вопросы современной педиатрии” Genetic testing can diagnose hair loss linked to DSG4 gene variants.
November 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists made a mouse that shows how a specific protein in the skin changes and affects hair growth and shape.
September 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” The mTurq2-Col4a1 mouse model shows that cells can divide while attached to stable basement membranes during development.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
September 2023 in “Curēus” A 21-year-old male has a benign skin condition called Becker's nevus, which he chose not to treat.
September 2023 in “Frontiers in bioengineering and biotechnology” JAGGED1 could help regenerate tissues for bone loss and heart damage if delivered correctly.
August 2023 in “Research Square (Research Square)” Personalized thiopurine dosing based on NUDT15 genotyping can improve long-term outcomes for ulcerative colitis and Crohn's disease patients.
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.
Higher EULAR/ACR scores in SLE patients predict more organ damage.
April 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Sweat gland development involves two unique skin cell programs and a temporary skin environment.
The treatment was ineffective in humans.
Deleting Smad4 and PTEN genes in mice causes rapid, invasive forestomach cancer.
Deleting Smad4 and PTEN genes in mice causes rapid, invasive stomach cancer.
February 2023 in “Research Square (Research Square)” Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
January 2023 in “Åbo Akademi University Research Portal” Vimentin is crucial for wound healing, cell growth, and managing immune responses.
January 2023 in “International Journal of Zoological Investigations” Certain genetic variations in IL-16 may increase the risk of alopecia areata.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
November 2022 in “Van Sağlık Bilimleri Dergisi” Turkish Van cats' genotypes don't affect traits like eye color or hair length.
November 2022 in “Gigascience” A specific genetic deletion in goats affects cashmere yield and thickness.
October 2022 in “Rheumatology (Bulgaria)” Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
Screening for iron levels in patients with hair loss may help find a genetic iron overload condition early.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
August 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Mouse touch-sensitive nerve cells adjust their connections based on competition with other similar cells.
May 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Primary cilia affect the size and oil production of eye glands but not the oil's makeup.