research Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
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120-150 / 1000+ results research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Thallium
Thallium exposure can cause serious health issues, including nerve damage and hair loss.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research TSH is a novel neuroendocrine regulator of selected keratins in the human hair follicle
TSH influences keratin expression in human hair follicles.
research Follicular delivery of spironolactone via nanostructured lipid carriers for management of alopecia
Nanostructured lipid carriers can effectively deliver spironolactone to hair follicles for treating hair loss.
research Trichothiodystrophy: Current Concepts
TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
research A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
research Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation
Cathepsin L deficiency causes hair and skin issues in mice.
research Beta thalassemia revealing hypothyroidism: A case report
Frequent blood transfusions in beta thalassemia patients can lead to thyroid problems.
research FLCN regulates transferrin receptor 1 transport and iron homeostasis
FLCN helps control iron levels in cells.
research The 532 Nm Laser Treatment Promotes the Proliferation of Tendon- Derived Stem Cells and Up-Regulates Nr4a1 to Stimulate Tenogenic Differentiation
A 532 nm laser at 15 J/cm2 speeds up tendon healing by increasing tendon stem cell growth and tendon-related gene activity.
research Thallium in rodenticide- banned or not..!!!- Two case reports
Thallium poisoning is dangerous but treatable with specific medical interventions.
research P5 Assembly of hair keratins in thansfected cultured cells
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
research Phase separation: a new window in RALF signaling
LLPS is crucial for RALF signaling, aiding plant growth and stress resilience.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research Design, Development, and Optimization of Spanlastics for Delivery of Rizatriptan Benzoate
Spanlastics effectively deliver Rizatriptan Benzoate with high efficiency and controlled release.
research The deduced sequence of the novel protransglutaminase E (TGase3) of human and mouse
Human and mouse TGase3 enzymes are similar but differ near the activation site, crucial for their function in skin and hair development.
research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
New mutations in hair keratin genes cause the rare hair disorder monilethrix.
research Integrated multiple machine learning and Mendelian randomization reveal LTF gene as a prognostic biomarker for nonspecific orbital inflammation
The LTF gene may help predict and manage nonspecific orbital inflammation.
research A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Editor's evaluation: Plant Trans-Golgi Network/Early Endosome pH regulation requires Cation Chloride Cotransporter (CCC1)
CCC1 is crucial for pH balance in plant cells, affecting growth and stress tolerance.
research TATA LAKSANA TERKINI PENYAKIT SINDROM STEVENS-JOHNSON (SSJ)/ NEKROLISIS EPIDERMAL TOKSIK (NET)
Early diagnosis, stopping the suspected drug, and supportive care are crucial for treating Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis.
research Small Mammal Populations and Community under Conditions of Extremely High Thallium Contamination in the Environment
High thallium contamination severely harms small mammal populations, causing health issues and low population density.
research Follicular delivery of spironolactone via nanostructured lipid carriers for management of alopecia
Using nanostructured lipid carriers to deliver spironolactone could improve treatment for hair loss.
research Trichoscopy in Unveiling the Triad of Netherton Syndrome
Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
research Thallium poisoning: Clinical observations through two outbreaks in Basrah
Thallium poisoning can cause hair loss, skin rashes, and nerve damage, and can be fatal if not correctly diagnosed and treated.
research Probing neuronal functions with precise and targeted laser ablation in the living cortex
The laser system helps study brain cell functions by precisely removing specific cells and observing changes.