18 citations
,
February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
2 citations
,
June 2012 in “Journal of Dermatological Science” The gene HDC is important for the development of hair follicles in newborn mice.
55 citations
,
November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
12 citations
,
September 2017 in “JDR Clinical & Translational Research” Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.
2 citations
,
April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
32 citations
,
February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.
2 citations
,
March 2015 in “Hepatitis Monthly” A woman's hair loss during Hepatitis C treatment with PEG-INF-a-2a and Ribavirin was reversible after stopping the medication.
15 citations
,
January 1993 in “DNA sequence” KRT2.13 gene is similar to KRT2.9 but not expressed in hair follicles.
6 citations
,
June 2016 in “Journal of cellular biochemistry” The Hr protein binds to DNA, interacts with p53, and affects cell cycle genes.
4 citations
,
January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
69 citations
,
May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
July 2016 in “Journal of Investigative Dermatology” R-spondin2 may help treat hair loss, gene differences could explain baldness, a peptide's regulation is linked to psoriasis, B-defensin gene copies may affect a skin condition's risk and severity, and potential markers and targets for alopecia areata were identified.
37 citations
,
January 1993 in “Journal of Investigative Dermatology” 35 citations
,
May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
3 citations
,
January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
20 citations
,
January 2002 in “Laboratory Animals” Mutations in the hairless gene cause hair loss and skin cysts in rhesus macaques.
January 2026 in “Nature Reviews Urology” The man likely has secondary syphilis affecting his nervous system.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
May 2025 in “CPT Pharmacometrics & Systems Pharmacology” A 50 mg non-loading dose of ritlecitinib is safe for adults and adolescents.
2 citations
,
September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
210 citations
,
February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
November 2024 in “Rheumatology Advances in Practice” Visceral leishmaniasis can mimic rheumatoid arthritis symptoms, especially in immunocompromised patients.
5 citations
,
January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
3 citations
,
July 2004 in “SKINmed/Skinmed” A 4-year-old girl was diagnosed with erythrokeratodermia variabilis after other treatments failed.
July 2025 in “SVU-International Journal of Medical Sciences” Children with Vitamin D-dependent rickets type II may have severe dental issues that need a team of specialists for proper care.
April 2016 in “Journal of Investigative Dermatology” Lymphoid-specific helicase (Lsh) is crucial for skin growth, change, and healing after injury.
1 citations
,
February 2009 in “Clinical and Experimental Dermatology” Hormone-replacement therapy improved a woman's skin condition known as lymphomatoid papulosis.
5 citations
,
September 2011 in “Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease” Hairless protein helps control hair growth by regulating vitamin D receptor activity.
6 citations
,
July 2020 in “Photodermatology Photoimmunology & Photomedicine” Early diagnosis of skin conditions linked to rickets is crucial to prevent growth and bone issues.