April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
48 citations,
January 2003 in “Fertility and Sterility” There's no significant link between the D19S884 marker at the insulin receptor gene and polycystic ovary syndrome.
44 citations,
January 2005 in “Dermatology” Hair problems can be caused by genetics or the environment, and treatment should focus on the cause and reducing hair damage.
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.
35 citations,
August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
35 citations,
August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
31 citations,
February 1997 in “The Journal of Clinical Endocrinology and Metabolism” People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.
29 citations,
December 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.
25 citations,
August 2007 in “Molecular Therapy” Researchers found a safe and effective way to pick genetically modified skin cells with high growth potential using CD24.
15 citations,
January 2010 in “Experimental Dermatology” Hair loss in certain young mice is linked to a specific gene and can be caused by lack of iron.
15 citations,
April 2002 in “British Journal of Dermatology” Hairless gene not strongly linked to baldness.
7 citations,
March 2011 in “Hormone and Metabolic Research” Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.
7 citations,
November 2000 in “Clinics in Dermatology” Most hair loss in children is caused by a few common conditions and is easy to diagnose, but rare types require careful evaluation.
2 citations,
December 2020 in “Endocrinology, diabetes & metabolism case reports” A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
March 2023 in “International journal of trichology” Six genetic conditions are often linked to complete scalp hair loss in children.
June 2021 in “Dermatology Online Journal” A girl with a rare genetic condition affecting hair and nails also developed a common type of hair loss, suggesting a possible genetic link.
480 citations,
August 2014 in “Nature Biotechnology” Changing the environment around stem cells could help tissue repair, but it's hard to be precise and avoid side effects.
359 citations,
September 2017 in “European Journal of Epidemiology” The Rotterdam Study updated findings on elderly health, focusing on heart disease, genetics, lifestyle effects, and disease understanding.
336 citations,
August 2015 in “European Journal of Epidemiology” The Rotterdam Study found risk factors for elderly diseases, links between lifestyle and genetics with health conditions, and aimed to explore new areas like DNA methylation and sensory input effects on brain function.
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.
222 citations,
January 2014 in “International journal of reproductive medicine” Insulin resistance and obesity are key factors in the development and worsening of polycystic ovary syndrome, and lifestyle changes are important for managing it.
186 citations,
July 1998 in “Journal of Cutaneous Medicine and Surgery” Shorter CAG repeats may cause hair and skin issues, while longer ones may link to acne.
150 citations,
October 2010 in “The American Journal of Pathology” The document concludes that more research is needed to better understand and treat primary cicatricial alopecias, and suggests a possible reclassification based on molecular pathways.
148 citations,
December 2018 in “Journal of autoimmunity” Alopecia areata is an autoimmune disease causing patchy hair loss, often with other autoimmune disorders, but its exact causes are unknown.
119 citations,
November 2014 in “Trends in Cell Biology” Fibroblast growth factor receptor signaling controls cell development and repair, and its malfunction can cause disorders and cancer, but it also offers potential for targeted therapies.
99 citations,
July 2017 in “Clinical Reviews in Allergy & Immunology” New treatments for Alopecia Areata show promise but need to be more effective and affordable.
94 citations,
April 2018 in “Nature Genetics” New genetic locations explain much of hair color variation in Europeans.
77 citations,
April 2009 in “British Journal of Dermatology” Aromatase gene variation may increase female hair loss risk.
66 citations,
June 2018 in “British Journal of Dermatology” European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.