May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
26 citations
,
August 2016 in “ACS Applied Materials & Interfaces” A boronic acid copolymer quickly forms cell clusters, useful for tissue and tumor modeling.
28 citations
,
May 2000 in “Proceedings of the National Academy of Sciences” The Walleye dermal sarcoma virus cyclin causes excessive skin cell growth in mice.
September 2016 in “Journal of Dermatological Science” Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
59 citations
,
January 2010 in “International Journal of Pediatric Endocrinology” NonClassic Congenital Adrenal Hyperplasia is a less severe form of a genetic disorder affecting adrenal gland function.
1 citations
,
January 2013 in “Lung India” Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.
4 citations
,
October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” 21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
253 citations
,
April 2009 in “Journal of Biological Chemistry” p2y5, now called LPA6, is a receptor important for human hair growth.
4 citations
,
September 2016 in “Molecular Medicine Reports” Specific genes influence hair and cashmere growth in Laiwu black goats.
9 citations
,
March 2022 in “Military Medical Research” Small molecules can help turn skin cells into sweat gland-like cells for potential skin repair.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
18 citations
,
June 2016 in “Clinical and Experimental Dermatology” Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
31 citations
,
January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
100 citations
,
December 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
11 citations
,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
3 citations
,
February 2021 in “Pediatric rheumatology online journal” A girl with lupus and trisomy X has a higher risk of bone problems like avascular necrosis and osteoporosis.
3 citations
,
November 2022 in “Frontiers in molecular biosciences” Plasmalogens activate a channel in cells that may stimulate hair growth.
3 citations
,
July 2017 in “Journal of Investigative Dermatology” SSEA-4 can distinguish between eccrine and apocrine sweat gland ducts.
December 2023 in “Intisari Sains Medis” SLE and DM can coexist but are rare and need careful evaluation.
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.
August 2025 in “BMC Pharmacology and Toxicology” The LTF gene may help predict and manage nonspecific orbital inflammation.
February 2026 in “Advanced Science” TTNPB helps turn stem cells into neural stem cells, improving depression-like behaviors in rats.
39 citations
,
March 2008 in “Journal of biological chemistry/The Journal of biological chemistry” GLI2 increases follistatin production in human skin cells.
3 citations
,
December 2022 in “The Neurologist” CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
March 2024 in “Research Square (Research Square)” Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
7 citations
,
September 2019 in “Journal of Cellular Physiology” Akt2 protein is essential for normal cell division in early mouse embryos.