98 citations,
March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
81 citations,
September 2009 in “Birth defects research” Different body areas in mice produce different hair types due to interactions between skin layers.
11 citations,
July 2022 in “Frontiers in Immunology” Four specific genes are linked to keloid formation and could be potential treatment targets.
1 citations,
February 2017 in “Journal of gynecology and womens health” The document concluded that more research is needed to understand how estrogen affects the enzyme involved in hirsutism development.
September 2023 in “Nature Communications” Rare genetic variants in five specific genes are linked to male-pattern hair loss but only account for a small part of the risk.
June 2023 in “Pharmaceuticals” Men and women respond differently to drugs for COVID-19, high cholesterol, and diabetes, which suggests a need for personalized treatments.
March 2023 in “International journal of trichology” Six genetic conditions are often linked to complete scalp hair loss in children.
73 citations,
April 1999 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Vitamin D receptor is crucial for bone health and mineral metabolism.
13 citations,
January 2013 in “Molecular genetics and metabolism” Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
21 citations,
August 1994 in “Clinical endocrinology” 5α-Reductase inhibitors can help treat hair loss, acne, and prostate issues by reducing DHT levels.
30 citations,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
30 citations,
June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
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.
13 citations,
July 2012 in “Pigment Cell & Melanoma Research” A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
34 citations,
March 2012 in “Circulation” Bridging anticoagulation may raise post-surgery bleeding risks.
July 2017 in “Contemporary Endocrinology” The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
40 citations,
December 2019 in “Neurobiology of Stress” Neuroactive steroids show promise for treating mental and neurological disorders by targeting GABA_A receptors.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
148 citations,
May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
13 citations,
May 1996 in “Archives of Disease in Childhood” Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
23 citations,
May 2020 in “Cell Death and Disease” Blocking the FGF5 gene in sheep leads to more fine wool and active hair follicles due to changes in certain cell signaling pathways.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
102 citations,
August 2008 in “Genes & Development” Laminin-511 is crucial for early hair growth and maintaining important hair development signals.
49 citations,
January 2010 in “International Journal of Pediatric Endocrinology” The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.
28 citations,
November 2013 in “The FASEB journal” Mice with CBS deficiency are healthier on a low-methionine diet.
16 citations,
January 2012 in “European Journal of Endocrinology” The study suggests certain ACE gene variations are more common in women with PCOS and may be linked to increased insulin resistance.
14 citations,
November 2015 in “Annals of the New York Academy of Sciences” Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
184 citations,
February 2015 in “EBioMedicine” A patient with Alopecia Areata had complete hair regrowth after using the drug baricitinib.
182 citations,
August 2016 in “Development” ATP-dependent chromatin-remodeling complexes are crucial for gene regulation, cell differentiation, and organ development in mammals.