research Barley disease susceptibility factor RACB acts in epidermal cell polarity and positioning of the nucleus
RACB in barley is crucial for cell polarity and nucleus positioning, aiding fungal infection.
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research GBP1 as a machine learning-prioritized biomarker and therapeutic target for epstein-barr virus-induced clear cell renal cell carcinoma: multi-omics causal validation
GBP1 is a key target for treating Epstein-Barr virus-related kidney cancer, and finasteride may help.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.
research Varicella Recurrence Complicated by Pneumonia After Liver Transplantation for APECED
A liver transplant patient with APECED had a rare VZV recurrence and pneumonia, treated successfully, but later died from other infections.
research A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses
A vitamin D receptor mutation causes rickets and affects immune responses.
research P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
research Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research 3212 Isolated basilar artery reversible cerebral vasoconstriction syndrome associated with finasteride and vaping
RCVS should be considered in thunderclap headaches, and MRA and DSA are better for diagnosis than CT angiogram.
research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research Long-term hair loss associated with brentuximab vedotin–containing chemotherapy and its psychosocial impact: A retrospective observational study conducted at the Royal Marsden Hospital.
Brentuximab vedotin chemotherapy can cause long-term hair loss and emotional distress.
research Efficacy and Safety of Sirolimus for Blue Rubber Bleb Nevus Syndrome: A Prospective Study
Sirolimus effectively reduces lesions and improves quality of life in Blue Rubber Bleb Nevus Syndrome with manageable side effects.
research Severe, Disfiguring, Pityriasis Rubra Pilaris in a Woman in the Dominican Republic
A woman with HIV had a severe skin condition that improved with antiretroviral therapy.
research Successful management of multiple extrapulmonary complications associated withRhodococcus equipneumonia in a foal
A sick foal with Rhodococcus equi pneumonia was successfully treated for multiple complications with targeted therapy and careful monitoring.
research A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
research SnapshotDx Quiz: May 2020
BIVV009 is a safe treatment for bullous pemphigoid that reduces C3 deposition without harmful side effects.
research Raltegravir-Induced Alopecia in an HIV+ Patient
Raltegravir may cause hair loss in some patients.
research Follow‐up of Adverse Drug Reactions from Peginterferon alfa‐2b—Ribavirin Therapy
Peginterferon alfa-2b and ribavirin therapy for hepatitis C can cause serious side effects, some different from those reported in clinical trials.
research Kaposi varicelliform eruption
Early diagnosis and treatment of Kaposi varicelliform eruption are crucial to prevent severe complications.
research Prenatal serological diagnosis of intrauterine cytomegalovirus infection.
Blood tests confirmed a baby in the womb had a CMV infection.
research 512 Varicella-zoster virus in actively spreading segmental vitiligo skin
The study suggests a link between varicella-zoster virus and segmental vitiligo, with evidence of the virus disrupting skin pigment cells.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Bipolar Patients and Bullous Pemphigoid after Risperidone Long-Acting Injectable: A Case Report and a Review of the Literature
Long-term use of Risperidone may be linked to a serious skin condition in bipolar patients, affecting their overall well-being.
research Vogt-Koyanagi-Harada Disease: A Narrative Review
Vogt-Koyanagi-Harada disease affects vision and skin, mainly in people with darker skin, and is treated with steroids and immunosuppressants.
research The abnormal, mis-localizated HR bmh protein associates with members of the protein processing machinery in the cytoplasm
The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research An eruption of numerous spiny papules in a pediatric transplant patient
Early recognition and treatment of VATS in transplant patients improve outcomes.
research Epstein-Barr virus associated with high-grade B-cell lymphoma in nude severe combined immunodeficiency
A boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.
research Accurate quantification of minimal residual disease at day 15, by real-time quantitative polymerase chain reaction identifies also patients with B-precursor acute lymphoblastic leukemia at high risk for relapse
Measuring minimal residual disease on day 15 helps identify high-risk leukemia patients.