19 citations
,
March 2017 in “Scientific Reports” HAT-L4 is crucial for preventing body fluid loss by maintaining skin barrier integrity.
1 citations
,
April 2017 in “Journal of Dermatology and Dermatologic Surgery” IVIG therapy was linked to hair regrowth in two patients with hair loss, but it's not recommended due to its risks and costs.
1 citations
,
December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
6 citations
,
June 2011 in “British Journal of Dermatology” People with alopecia areata have higher levels of RBP4 protein and antibodies against it.
3 citations
,
January 2022 in “Modern Rheumatology Case Reports” Renal histology is crucial for diagnosing simultaneous SLE and IgG4RD.
11 citations
,
June 2017 in “Journal of cell science” AGD1's PH domain is essential for its role in root hair growth and polarity.
January 2011 in “Journal of Human Genetics” A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
April 2018 in “Journal of Investigative Dermatology” High amphiregulin in the skin is a bad sign for acute graft-versus-host disease.
November 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” 4-aminopyridine helps skin wounds heal faster and better.
1 citations
,
November 2022 in “International journal of trichology” A girl with a rare skin condition improved after one month of treatment with acitretin.
2 citations
,
December 2016 in “Experimental cell research” The research found a way to identify and study skin cells with stem cell traits, revealing they behave differently in culture and questioning current stemness assessment methods.
21 citations
,
March 2018 in “American Journal Of Pathology” Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
1 citations
,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
26 citations
,
September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
5 citations
,
January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
13 citations
,
August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
14 citations
,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
March 2022 in “Research Square (Research Square)” 4-aminopyridine, a FDA-approved drug, speeds up skin wound healing and tissue regeneration.
October 2023 in “Frontiers in Medicine” Dupilumab helped a 4-year-old grow hair back after another treatment failed.
3 citations
,
July 2017 in “Journal of Investigative Dermatology” SSEA-4 can distinguish between eccrine and apocrine sweat gland ducts.
October 2025 in “Proceedings of the National Academy of Sciences” Phospholipids help plant proteins move by regulating receptor interactions.
31 citations
,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
January 2022 in “Al-Azhar Medical Journal” Higher antigliadin antibody levels are linked to alopecia areata severity.
October 2017 in “Journal of Investigative Dermatology” Pemphigus vulgaris involves specific immune cells and B cells that produce antibodies causing skin blisters.
23 citations
,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
April 2016 in “Journal of Investigative Dermatology” A peptide known for reducing wrinkles also effectively inhibits an enzyme linked to skin inflammation and acne.
71 citations
,
January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
11 citations
,
August 2010 in “Developmental neurobiology” Ptprq has multiple forms that change during inner ear development.
April 2023 in “Journal of Investigative Dermatology” Mast cells and the CB1 receptor may be key in causing IgA vasculitis.