11 citations
,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
10 citations
,
May 2012 in “PloS one” Low ERCC3 gene activity is linked to non-pigmented hair growth.
10 citations
,
June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
9 citations
,
February 2013 in “Hormone and Metabolic Research” Mutations in the CYP21A2 gene are not a major factor in causing PCOS.
7 citations
,
October 2020 in “Wiener medizinische Wochenschrift” THA is a rare condition with no significant clinical consequences if thyroid function is normal.
7 citations
,
June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
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.
6 citations
,
January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
6 citations
,
June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
6 citations
,
April 2013 in “Journal of Investigative Dermatology” Spironolactone might lower the chance of getting rosacea.
5 citations
,
November 2024 in “Journal of Clinical Immunology” Dupilumab effectively controls symptoms in infants with Netherton syndrome.
5 citations
,
May 2011 in “Movement Disorders” Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.
5 citations
,
May 2011 in “Movement Disorders” Finasteride may help reduce tic severity in male Tourette syndrome patients.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
4 citations
,
May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
4 citations
,
January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
4 citations
,
March 2009 in “British Journal of Dermatology” The conference highlighted new dermatological treatments and emphasized early intervention and addressing conditions lacking evidence-based treatments.
3 citations
,
May 2025 in “Cell Death and Disease” Targeting METTL1 may help slow papillary thyroid cancer growth and spread.
3 citations
,
December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
2 citations
,
March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Hairless mammals have genetic changes in both their protein-coding and regulatory sequences related to hair.
1 citations
,
January 2024 in “Pediatric Endocrinology Diabetes and Metabolism” Cinacalcet may help treat hereditary vitamin D resistant rickets safely.
1 citations
,
May 2023 in “Journal of molecular evolution” Pangolins have lost some skin-related genes, but kept others, leading to their unique scales and skin features.
1 citations
,
December 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Pangolins have lost some skin-related genes, but kept others, showing complex skin evolution.
1 citations
,
May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
1 citations
,
November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
1 citations
,
January 2011 in “Springer eBooks” Histone demethylases play a key role in the development of many diseases and may be targets for treatment.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
December 2025 in “Cureus” Localized dystrophic epidermolysis bullosa (DEB) can lead to scarring alopecia, highlighting the need to recognize and address this complication.
December 2025 in “Frontiers in Medicine” ARWH is a rare hair disorder with no cure, but potential treatments include minoxidil and other therapies.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.