research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
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research Multiple skin cancers in a patient within 1 year of allogeneic haematopoietic cell transplant for chronic lymphocytic leukaemia
A man got six skin cancers within a year after a cell transplant for leukemia but was cancer-free 32 months later; skin checks are important post-transplant.
research A 5'-upstream region of a bovine keratin 6 gene confers tissue-specific expression and hyperproliferation-related induction in transgenic mice.
A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.
research Reviewer #2 (Public Review): CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
research Keratoma Hereditaria Mutilans (Vohwinkel's Disease) with Congenital Alopecia Universalis (Atrichia Congenita)
Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Induction of synapse associated protein 102 expression in cyclosporin A-stimulated hair growth
Cyclosporin A promotes hair growth in mice and increases a protein linked to hair growth, but it may not work the same way in humans.
research Alopecia associated with ritonavir-boosted atazanavir therapy
A man's hair loss was linked to his HIV medication, which improved after changing drugs.
research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research Drug repositioning approach to target viral and host cells in terms of COVID-19 treatment: A review of in vivo experiments and clinical studies
Repurposing existing drugs for COVID-19 shows promise but requires more research to confirm effectiveness.
research 306 Effect of Cellular Blood Components on Chemotherapy Induced Alopecia
Mononuclear cells may protect against certain chemotherapy-induced hair loss.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research Ectodysplasin-A2 induces dickkopf 1 expression in human balding dermal papilla cells overexpressing the ectodysplasin A2 receptor
A protein called ectodysplasin-A2 increases a hair growth inhibitor in balding cells, which could be a target for hair loss treatment.
research Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
research Observation and consideration on using of JAKi in clinical trials in times of COVID ‐19
Using Janus kinase inhibitors (JAKi) in COVID-19 treatment requires careful consideration due to their immunosuppressive effects.
research High-confidence cancer patient stratification through multiomics investigation of DNA repair disorders
CEP135 may predict cancer outcomes, and targeting PLK1 could help treat certain sarcomas.
research Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases
H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
research A bibliometric analysis of T cell and atherosclerosis
T cells and inflammation are crucial in atherosclerosis, with anti-inflammatory treatments showing promise.
research Betulinic acid exerts anti‐hepatitis C virus activity via the suppression of NF ‐κB‐ and MAPK ‐ERK 1/2‐mediated COX ‐2 expression
Betulinic acid can help treat hepatitis C by stopping virus replication.
research Detection of Serum Levels of Interleukins-17, 21, 6 and Tumor Necrosis Factor-α in Patients with Patchy Alopecia Areata and Their Association with Disease Severity
Higher levels of certain proteins in the blood are linked to more severe patchy alopecia areata.
research Enzalutamide, a prostate cancer therapeutic, downregulates TMPRSS2 in lung and reduces cellular entry of SARS-CoV-2
Enzalutamide, a prostate cancer drug, may help prevent COVID-19 by blocking the virus from entering lung cells.
research Effect of Systemic Immunomodulators on Incidence of Alopecia Areata: A Retrospective Cohort Study
Leflunomide may lower alopecia areata risk, while other immunomodulators might increase it.
research Alopecia Areata with Renal Dysgenesis
Alopecia areata may be linked to kidney issues, but more research is needed.
research Efficacy and tolerability of azathioprine for neuromyelitis optica spectrum disorder: A systematic review and meta-analysis
Azathioprine can help with relapses and disability in NMOSD but has more side effects and needs more research.
research Alisertib is active as single agent in recurrent atypical teratoid rhabdoid tumors in 4 children
Alisertib was found to be an effective and tolerable treatment for children with recurrent brain tumors.
research Canine and Feline Cutaneous Lymphocytosis: Reactive Process or Indolent Neoplastic Disease?
Cats likely have a reactive skin condition, while dogs may have a more complex, possibly cancerous one.
research JAK Inhibitor Therapy in Alopecia Areata with Latent Hepatitis B Virus or Tuberculosis Infection: A Safety Assessment
JAK inhibitors can be safely used for alopecia areata in patients with latent hepatitis B or stable tuberculosis with proper monitoring.
research A Nonredundant Human Protein Chip for Antibody Screening and Serum Profiling
The technology can help diagnose and subtype autoimmune diseases by identifying specific autoantibodies.