11 citations
,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
25 citations
,
May 2016 in “Progress in Biophysics & Molecular Biology” R-spondins and their receptors help increase bone growth and may be used to treat bone loss diseases.
15 citations
,
August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
January 2019 in “Industrial Law Journal” The regulations aimed to improve domiciliary care in Wales by ensuring better work conditions and visit schedules.
April 2026 in “Mathematics” Platelet dose in therapies varies greatly due to factors like injected volume and concentration.
December 2022 in “Frontiers in plant science” CCDC22 and CCDC93 are essential for root and root hair growth in Arabidopsis.
64 citations
,
June 2014 in “Journal of The American Academy of Dermatology” Researchers found a white halo around hair in most patients with a specific type of hair loss, which helps in early diagnosis and treatment.
7 citations
,
September 2013 in “Familial cancer” Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
143 citations
,
May 2002 in “PubMed” LGD1069 effectively prevents breast tumors in mice without toxicity.
June 2024 in “Journal of Clinical Oncology” Dalpiciclib is the safest and most satisfying CDK4/6 inhibitor for advanced breast cancer patients in China.
3 citations
,
January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
April 2024 in “BMB Reports” Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
October 2014 in “Archives of Disease in Childhood” Growth hormone therapy can improve symptoms and growth in children with Vitamin-D Dependent Rickets Type-2.
November 2024 in “Journal of Investigative Dermatology” Genetic changes in specific proteins contribute to hair loss in some women of African descent.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
13 citations
,
November 2018 in “Animal Genetics” A new gene variant causes curly coats in some dog breeds.
4 citations
,
February 2023 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” The study found that certain mutations in the vitamin D receptor can cause rickets and potentially affect hair growth.
19 citations
,
January 2015 in “Skin appendage disorders” The report found a new type of hair loss in African-American women that affects more areas of the scalp than previously thought.
62 citations
,
January 2009 in “Biochemistry” Vitamin D receptor binds similarly to natural and synthetic ligands, affecting gene regulation.
1 citations
,
July 2025 in “SKIN The Journal of Cutaneous Medicine” Ritlecitinib is effective and safe for long-term treatment of alopecia areata.
May 2026 in “ACS Catalysis” Efficient enzyme function relies on specific residue interactions and structural coordination.
39 citations
,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
Ca²⁺-mediated protein citrullination controls cell growth in the CNS and may help treat brain tumors.
33 citations
,
August 2018 in “Cochrane Database of Systematic Reviews” Enteral nutrition's role in maintaining Crohn's disease remission is unclear and needs more research.
3 citations
,
January 2008 in “Drug Safety”
25 citations
,
September 2010 in “Journal of Cutaneous Medicine and Surgery” The study found that Central Centrifugal Cicatricial Alopecia mainly affects middle-aged African descent women, is linked to certain hair care practices and genetics, and often goes undiagnosed for years.
July 2023 in “Nasza Dermatologia Online” More research is needed on CCCA in children, especially Black and Asian adolescents.
32 citations
,
May 2018 in “The Plant Cell” ERULUS is crucial for root hair growth by controlling calcium levels.
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.