29 citations
,
June 2017 in “Journal of Inherited Metabolic Disease” High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.
4 citations
,
January 2013 in “International Journal of Trichology” Desmogleins are crucial for hair structure and growth.
September 2023 in “Journal of the American Academy of Dermatology” Having PCOS does not make hidradenitis suppurativa worse.
1 citations
,
December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
26 citations
,
December 1990 in “Journal of Biological Chemistry” Two specific genes are more active during hair growth in mice.
5 citations
,
August 2005 in “Archives of Dermatological Research” HSPC016 gene is important for hair growth.
1 citations
,
October 2022 in “Curēus” Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
2 citations
,
October 2021 in “Research Square (Research Square)” Older age and prostatic hyperplasia in males increase the risk of hemorrhagic cystitis after stem cell transplantation.
19 citations
,
August 1999 in “European journal of endocrinology” The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
11 citations
,
November 2011 in “The Journal of Dermatology” Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
354 citations
,
August 1991 in “Molecular Endocrinology” Human adrenals and gonads have a unique enzyme for steroid hormone production.
3D culture better preserves sweat gland cell identity than 2D culture.
16 citations
,
November 2011 in “PubMed” The treatment improved hair growth in people with male pattern baldness.
A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
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.
16 citations
,
September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
27 citations
,
May 2011 in “Journal of Investigative Dermatology” TCHHL1 is a protein important for hair growth, found in hair follicles.
3 citations
,
May 2013 in “PubMed” Research on Hutchinson-Gilford progeria syndrome could help understand normal aging and heart disease.
4 citations
,
December 2022 in “Skin Research and Technology” Reduced Sonic hedgehog signaling leads to increased HPV replication and wart formation.
Hair cortisol may help identify adrenal insufficiency in sickle cell disease patients.
2 citations
,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
3 citations
,
May 1990 in “Journal of Steroid Biochemistry” Some women with excess hair growth have a hormone condition that can't be diagnosed by blood or urine tests alone.
November 2024 in “Journal of Investigative Dermatology” Secukinumab reduces immune activity in hidradenitis suppurativa skin.
March 2021 in “Journal of The European Academy of Dermatology and Venereology” Low quality of life and high HSS-29 scores increase risk of losing patients during treatment.
June 2019 in “International journal of dermatology and venereology” The Hedgehog Signaling Pathway is important for skin and hair development and skin cancer treatment, but more research is needed to understand it fully.
October 2024 in “Journal of the Endocrine Society” Ovarian steroid cell tumors can mimic adrenal hyperplasia, and surgery can normalize hormone levels.