research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
Search
for
Sort by
Research
60-90 / 1000+ results research Clinical Translation of Targeted Protein Degraders
Targeted protein degraders show promise in treating cancer but need to target more diverse proteins.
research Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13
research Isotope Dilution-Based Targeted and Nontargeted Carbonyl Neurosteroid/Steroid Profiling
Researchers created a new method to measure brain steroids, finding higher levels of certain steroids and changes due to a drug.
research NUDT15,FTO, andRUNX1genetic variants and thiopurine intolerance among Japanese patients with inflammatory bowel diseases
Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
research The Knudsen Nomenclature
Dr. Russell Knudsen's system classifies hair grafts by class, shape, and size for clearer communication in hair restoration surgery.
research Evidence for multiple, developmentally regulated isoforms of Ptprq on hair cells of the inner ear
Ptprq has multiple forms that change during inner ear development.
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
research Reporting in clinical studies on platelet-rich plasma therapy among all medical specialties: A systematic review of Level I and II studies
The review concluded that reporting on PRP therapy is often incomplete, leading to uncertainty about its effectiveness.
research Rethinking the classification of alopecia areata
The document concludes that a new system using the SALT score should replace the current alopecia areata classification for better accuracy in assessing severity and prognosis.
research Standardizing the Nomenclature of Grafts
The authors suggest using a standard system to name hair grafts to improve communication in hair restoration.
research Abstract 2205: KRTAP 2-3 is a novel potential biomarker of cells in the polyaneuploid cancer cell (PACC) state to predict cancer recurrence
KRTAP2-3 could help predict cancer recurrence by identifying specific cancer cells.
research A Thallium-Based Screening Procedure to Identify Molecules That Modulate the Activity of Ca2+-Activated Monovalent Cation-Selective Channels
The conclusion is that a new test was created to find substances that affect specific ion channels, and it works well for drug discovery.
research Congress abstracts SPEDM
The Bethesda system is effective for identifying thyroid cancer but has low sensitivity.
research Classification of psychodermatological disorders: Proposal of a new international classification
The document suggests a new way to categorize skin and mind disorders into two main groups to reduce confusion.
research PROTACs: A novel strategy for cancer drug discovery and development
PROTAC technology shows promise for cancer treatment but needs more effective E3 ligase recruiters.
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research AnnoPharma: Detection of substances responsible of ADR by annotating and extracting information from MEDLINE abstracts
AnnoPharma effectively identifies substances causing adverse drug reactions in medical abstracts.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research Distribution of P2X3‐immunoreactive fibers in hairy and glabrous skin of the rat
P2X3-IR fibers are widespread in rat skin and likely help detect pain.
research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis
Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research The CAP1/Prss8 catalytic triad is not involved in PAR2 activation and protease nexin‐1 (PN‐1) inhibition
CAP1/Prss8 does not activate PAR2 or inhibit PN-1.
research Application of PCR Technique to Detect Polymorphism of the KRTAP1.1 Gene in Three Sheep Breeds - A Review
The PCR technique can identify genetic differences in a wool-related gene among different sheep breeds, which may help improve wool and pelt quality.
research Past and Future Strategies for GPCR Deorphanization
Finding functions for unknown GPCRs is hard but key for making new drugs.
research Neuropilin 2 expression and function in melanocytes and melanoma
Neuropilin 2 may be a biomarker for melanoma and affects melanocyte behavior.
research Advancing Design Strategy of PROTACs for Cancer Therapy
PROTACs show promise for cancer treatment, but designing them effectively is challenging.
research Redefining hormone resistance in prostate cancer
The conclusion suggests that prostate cancer should be classified by castration status and that new therapies targeting androgen receptor signaling show promise.