CaBP1 and CaBP2 are important for continuous hearing by preventing inactivation of calcium currents in ear cells, with CaBP2 also able to restore hearing when reintroduced.
2 citations
,
January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
February 2025 in “American Journal of Biomedical Science & Research” A rare combination of hair loss and excessive fine hair growth was found in celiac disease patients.
11 citations
,
January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
37 citations
,
January 1993 in “Journal of Investigative Dermatology”
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
23 citations
,
January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
Alopecia areata patients show increased inflammation and OX40 activation, suggesting a new treatment target.
10 citations
,
December 2015 in “International Journal of Dermatology” CK 15, follistatin, and Bmi-1 can help differentiate basal cell carcinoma from squamous cell carcinoma.
15 citations
,
November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
11 citations
,
January 2013 in “Indian Journal of Endocrinology and Metabolism” A woman with a rare adrenal tumor and hormonal disorder had improved testosterone levels after surgery, but her menstrual irregularities continued.
April 2019 in “Journal of Investigative Dermatology” Frontal Fibrosing Alopecia involves disrupted cholesterol pathways, fibrosis, and increased mast cells.
December 2013 in “International Journal of Dermatology” The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
36 citations
,
September 1999 in “Journal of Cell Science” Basonuclin may help control ribosomal RNA gene activity in skin cells.
69 citations
,
May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
August 2023 in “Journal of the American Academy of Dermatology” The letter suggests that the study's comparison group might have affected the results and calls for larger, more detailed future research.
January 2024 in “International Journal of Molecular Sciences” Blocking the protein CXCL12 with a specific antibody can increase hair growth in common hair loss conditions.
7 citations
,
March 2018 in “Asian-Australasian journal of animal sciences” OCIAD2 and DCN genes affect hair growth in goats by having opposite effects on a growth signaling pathway and inhibiting each other.
7 citations
,
August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
April 2010 in “The Journal of Urology” Human prostate cells produce more WISP1/CCN4 when there's not enough oxygen.
Integrating ABI screening in clinics can improve patient care for those at risk of peripheral artery disease.
184 citations
,
February 2015 in “EBioMedicine” A patient with Alopecia Areata had complete hair regrowth after using the drug baricitinib.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
3 citations
,
May 2023 in “Precision clinical medicine” Researchers found four genes that could help diagnose severe alopecia areata early.
7 citations
,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
January 2022 in “Clinical Cases in Dermatology” A condition called Central Centrifugal Cicatricial Alopecia causes hair loss and scalp burning in middle-aged African women, and it's treated with various medications, hair transplants, and non-drug methods like wigs.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The ALADIN score can predict how well patients with alopecia areata will respond to JAK inhibitor treatments.