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240-270 / 1000+ resultsresearch 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research 51826 PRO-C22 - A Novel Serological Biomarker of Tissue Damage is Associated with Disease Severity, Disease Activity, and Systemic Inflammation in Patients with Hidradenitis Suppurativa
PRO-C22 can help diagnose and monitor the severity of hidradenitis suppurativa.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Identification of seven new prostate cancer susceptibility loci through a genome-wide association study
Seven new genetic risk areas for prostate cancer were found.
research 0196 Levamisole-induced pyoderma gangrenosum case report
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 Homeostasis of the sebaceous gland and mechanisms of acne pathogenesis
The document's conclusion cannot be provided because the document is not available to parse.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
research Functional characterization and unraveling the structural determinants of novel steroid hydroxylase CYP154C7 from Streptomyces sp. PAMC26508
CYP154C7 enzyme can effectively modify steroids and is promising for commercial use.
research Contents Vol. 201, 2000
research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research MAGİSTRAL AVTOMOBİL YOLLARI. TARIXİ, TORPAQ SAHƏSİ, MÜASİR VƏZİYYƏTİ, PROBLEMLƏRİ
The document's conclusion cannot be provided because the content is not in a readable format.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Estudio clínico-patológico sobre el cáncer de próstata incidental en pacientes intervenidos bajo el supuesto diagnóstico de HBP sintomática
Incidental prostate cancer was found in 4.89% of patients undergoing surgery for benign prostatic hyperplasia.
research 0749 Serine and arginine-rich splicing factor 3 regulates epidermal differentiation in cutaneous squamous cell carcinoma
research LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome
A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
research The Autoimmune Regulator (AIRE), Which Is Defective in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients, Is Expressed in Human Epidermal and Follicular Keratinocytes and Associates With the Intermediate Filament Protein Cytokeratin 17
AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research DataSheet4_BBS7–SHH Signaling Activity Regulates Primary Cilia for Periodontal Homeostasis.csv
BBS7 is crucial for maintaining healthy periodontal ligaments by supporting Shh signaling.
research JID VisualDx Quiz: February 2013
research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
research 412 DETECTION OF CIRCULATING PROSTATE CANCER CELLS BY MEANS OF AN ANTIBODY-CONJUGATED NANOPARTICULAR BIOSENSOR
The document concludes that a new biosensor can efficiently detect prostate cancer cells and that standardized referrals help find significant cancers effectively.
research Meetings and Studies
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research Doctor’s (patient’s) guide to estimating transplant grafts
The document could not be processed to provide a conclusion.
research 198 Dutasteride for men with androgenic alopecia unresponsive to finasteride
research Error in Author Surname
The document could not be processed due to an error in the author's last name.
research Cyberspace Chat
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