36 citations,
July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
[object Object] 165 citations,
September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
65 citations,
September 2010 in “Journal of the Neurological Sciences” Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
28 citations,
February 2019 in “Genes” Proper control of β-catenin activity is crucial for development and preventing diseases like cancer.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
59 citations,
April 2016 in “Cell Reports” EdnrB signaling helps melanocyte stem cells regenerate and could be targeted to treat pigmentation issues.
17 citations,
August 2018 in “BMC Genomics” The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
5 citations,
February 2019 in “PloS one” Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
6 citations,
October 2020 in “Endocrine journal” A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
November 2009 in “Medical & surgical dermatology” The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
April 2017 in “Journal of Investigative Dermatology” Scientists created a tiny, 3D model of a hair follicle that grows and acts like a real one.
75 citations,
September 2017 in “Developmental biology” The circadian clock influences the behavior and regeneration of stem cells in the body.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” GRK2 is essential for healthy hair follicle function, and its absence can lead to hair loss and cysts.
51 citations,
August 2013 in “The Journal of experimental medicine/The journal of experimental medicine” Loss of a specific protein in skin cells causes symptoms similar to psoriasis.
September 2019 in “Journal of Investigative Dermatology” Specialized ribosomes affect aging in human skin cells.
30 citations,
June 2014 in “Seminars in Immunology” Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
100 citations,
May 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
134 citations,
January 2011 in “Development” Adam10 enzyme is crucial for healthy skin and proper Notch signaling.
November 2018 in “Atlas of genetics and cytogenetics in oncology and haematology” WNT10B is linked to cancer development and affects survival and disease progression in various cancers.
695 citations,
October 2011 in “Cell stem cell” Low oxygen areas help maintain and protect blood stem cells by using a simple sugar breakdown process for energy and managing their activity levels.
22 citations,
June 2013 in “International journal of molecular sciences” Stem cell differentiation is crucial for skin barrier maintenance and its disruption can lead to skin diseases.
1 citations,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
49 citations,
March 2017 in “PubMed” Enhancers and super-enhancers are key in controlling specific gene activity and can play a role in cancer development.
31 citations,
August 2021 in “Stem Cell Research & Therapy” The conclusion is that understanding how hair follicle stem cells live or die is important for maintaining healthy tissue and repairing injuries, and could help treat hair loss, but there are still challenges to overcome.
September 2013 in “Experimental Dermatology” The document concluded that stem cells are crucial for skin repair, regeneration, and may help in developing advanced skin substitutes.
42 citations,
May 2013 in “Oral Diseases” Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
24 citations,
October 2017 in “Biomolecules” Some growth factors, while important for normal body functions, can cause diseases when not regulated properly.
35 citations,
October 2017 in “Signal Transduction and Targeted Therapy” Fibromodulin treatment helps reduce scarring and improves wound healing by making it more like fetal healing.
333 citations,
February 2010 in “Cell Stem Cell” Stem cell niches are crucial for regulating stem cell behavior and tissue health, and their decline can impact aging and cancer.
[object Object] 138 citations,
June 2012 in “Genes & Development” Sonic hedgehog signaling is crucial for hair growth and maintaining hair follicle identity.