Reducing iron levels didn't improve heart health or metabolism in women with certain ovarian issues.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
127 citations
,
January 2015 in “Journal of Biological Rhythms” The skin's internal clock affects healing, cancer risk, aging, immunity, and hair growth, and disruptions can harm skin health.
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.
55 citations
,
August 2008 in “Reviews in endocrine and metabolic disorders” Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
32 citations
,
February 2008 in “Developmental dynamics” Mice without the Sp6 gene have problems developing several body parts, including hair, teeth, limbs, and lungs.
31 citations
,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
28 citations
,
July 2008 in “Developmental Biology” Smad4 is important for healthy hair follicles because it helps produce a protein needed for hair to stick together and grow.
15 citations
,
October 2014 in “Journal of Investigative Dermatology” New treatments targeting the Hedgehog pathway can help treat advanced skin cancer but may have side effects and their effectiveness in early stages is unknown.
11 citations
,
January 2012 in “Journal of cell science” Rac1 is essential for proper hair structure and color.
5 citations
,
February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
2 citations
,
January 2002 in “Hormone Research in Paediatrics” Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
April 2025 in “Dermatology Practical & Conceptual” Increased LC3 gene expression may be linked to premature graying of hair.
July 2004 in “British Journal of Dermatology” The document concludes that accurate diagnosis and treatment are crucial in dermatology, and it presents various findings on skin conditions and treatments.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
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.
39 citations
,
April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
245 citations
,
January 1998 in “Genes & Development” Hoxc13 gene is essential for hair, nail, and papilla development.
224 citations
,
March 2006 in “Seminars in Cutaneous Medicine and Surgery” The document concludes that understanding hair follicle biology can lead to better hair loss treatments.
196 citations
,
March 2016 in “Nature Communications” Genetic factors influence hair traits like shape, color, and greying in Latin Americans.
184 citations
,
September 2006 in “PLoS Genetics” The Apc gene is crucial for normal skin and thymus development.
166 citations
,
July 1999 in “American Journal Of Pathology” The hairless (hr) gene is essential for normal hair follicle function and its mutation leads to hair loss.
151 citations
,
December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
139 citations
,
September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
138 citations
,
November 2015 in “Journal of Pharmacology and Experimental Therapeutics” Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
138 citations
,
June 2004 in “Journal of Investigative Dermatology” Involucrin gene expression is controlled by specific proteins and signaling pathways.
117 citations
,
May 2017 in “Human Reproduction Update” The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
103 citations
,
October 2003 in “Birth Defects Research” Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
89 citations
,
September 2010 in “Annual Review of Genomics and Human Genetics” The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
88 citations
,
April 2017 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.