ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
March 2003 in “Best Practice & Research Clinical Haematology” 5 citations
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October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
1 citations
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January 2024 in “Wiadomości Lekarskie” Detecting early breast arterial calcifications can help assess cardiovascular disease risk.
5 citations
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June 2001 in “Annals of Internal Medicine” Rituximab effectively treated a woman's bone lymphoma that was resistant to other treatments.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
4 citations
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October 2011 in “International Journal of Dermatology” Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
April 2026 in “The Open Biotechnology Journal” Resveratrol shows health benefits but faces challenges in effectiveness and regulation.
3 citations
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May 1999 in “Dermatologic Surgery” Dr. Connelly agrees that linear basal cell carcinomas might be more aggressive but highlights the study's lack of clear criteria to identify them.
February 2026 in “Journal of Dermatology and Skin Science” Dermatologists are key in detecting and managing OCD and BFRBs by working with psychiatrists.
January 2025 in “Ciência Rural” Improper use of benzyl benzoate on a dog can cause severe skin reactions.
15 citations
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November 2009 in “Journal of Comparative Pathology” Epidermolysis bullosa in calves was not caused by mutations in the keratin genes bKRT5 and bKRT14.
January 1998 in “International Society of Hair Restoration Surgery” 27 out of 32 candidates passed the hair restoration surgery exam.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
6 citations
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June 2011 in “British Journal of Dermatology” People with alopecia areata have higher levels of RBP4 protein and antibodies against it.
November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
7 citations
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August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
14 citations
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June 1982 in “Archives of Dermatology” A man had bad reactions to a hair loss treatment called DNCB.
September 2025 in “Journal of Cosmetic Dermatology” Rb-bFGF improves hair transplant results and patient satisfaction with fewer complications.
May 2010 in “Europe PMC (PubMed Central)” Near-infrared probes can safely and effectively image cysteine protease activity for disease diagnosis.
32 citations
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July 2018 in “FEBS letters” A specific protein complex increases the activity of a plant enzyme, but this action is not required for plant root hair growth.
29 citations
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January 2003 in “KARGER eBooks” HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.
20 citations
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April 2011 in “British Journal of Dermatology” Reflectance confocal microscopy can tell apart white dots on the scalp as either sweat gland ducts or hair follicle openings.
1 citations
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June 2018 in “World rabbit science” Different miRNAs in Rex rabbit skin affect cell processes and hair growth.
11 citations
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October 2021 in “Orphanet journal of rare diseases” Patients with RASopathies are at risk for autoimmune disorders and should be routinely screened.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
23 citations
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June 1992 in “PubMed” RAR-gamma 1 is important for normal skin maintenance and differentiation.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Robertsonian translocation can cause recurrent miscarriages.
1 citations
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January 2012 The CRABP I gene in cashmere goats is highly conserved but has unique features at specific amino sites.
5 citations
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.