research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
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research Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research Identificación de la variación molecular y genética subyacente a las enfermedades de la piel
Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
research 164 Epigenetic and transcriptional profiling of PBMCs in mild and severe alopecia areata using single-cell RNA-Seq and ATAC-Seq
The study identified key immune cell differences between mild and severe alopecia areata.
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 Primary vitreoretinal lymphoma masquerading as refractory uveitis—just go with the flow
Early and accurate diagnosis of primary vitreoretinal lymphoma is crucial to prevent serious complications.
research Signs of some hematological diseases with the help of monoclonal antibodies LT-1, LT-2, LT-7
Monoclonal antibodies LT-1, LT-2, and LT-7 help diagnose certain blood cancers.
research Dissecting the genetic variations associated with response to first-line chemotherapy in patients with small cell lung cancer: a retrospective cohort study
Increased EGFR gene variations may predict chemotherapy outcomes in small cell lung cancer patients.
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 The Mammalian Hairless Protein as a DNA Binding Phosphoprotein
The Hr protein binds to DNA, interacts with p53, and affects cell cycle genes.
research Drug-Loaded Extracellular Vesicle-Based Drug Delivery: Advances, Loading Strategies, Therapeutic Applications, and Clinical Challenges
EV-based drug delivery shows promise but faces challenges in standardization and scalability.
research Epidermolysis Bullosa Acquisita Occuring In A Patient With Systemic Lupus Erythematosus
A woman with lupus also developed a severe skin condition linked to a genetic factor.
research Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies
Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
research Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
Umbilical cord blood transplantation improved the boy's symptoms despite complications.
research High‐frequency (22‐MHz) ultrasound for assessing the depth of basal cell carcinoma invasion
High-frequency ultrasound effectively measures basal cell carcinoma depth.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
research Curly : a new hair defect mutation in the SELH/bc mouse strain
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
research Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21
A cluster of sulfur-rich hair protein genes was found on chromosome 17.
research Genome size determination of Eclipta alba and Aloe barbadensis
Eclipta alba has a genome size of 4.27 billion base pairs, and Aloe barbadensis has 4.42 billion base pairs.
research Cell Proteomic Footprinting: Advances in the Quality of Cellular and Cell-Derived Cancer Vaccines
Cell proteomic footprinting enhances cancer vaccine quality by ensuring correct antigen composition.
research Interactions between epidermal growth factor and the Tabby mutation in skin
Normal skin results from interactions between EGF and the Tabby mutation.
research Bayesian Hidden Markov Modelling of Blood Type Distribution for Covid-19 Cases Using Poisson Distribution
Blood type affects COVID-19 infection rates differently in Europe and Africa.
research In Vivo Evaluation ofEclipta albaExtract as Anticancer and Multidrug Resistance Reversal Agent
Eclipta alba extract may work as an anticancer agent and help reverse drug resistance.
research [Efficacy of combination chemotherapy with mitoxantrone, vincristine, prednisolone (MVP) for recurrence of breast cancer].
MVP treatment is effective and safe for recurrent breast cancer.
research Pulmonary manifestations of Birt-Hogg-Dubé syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
research Hair shaft structures in EDAR induced ectodermal dysplasia
The EDAR gene mutation leads to thinner and more deformed hair shafts.
research Eruptive vellus hair cysts of the labia majora: detection of openings of the cysts to the epidermis by dermoscopy
Dermoscopy can non-invasively detect eruptive vellus hair cysts on the labia majora.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.