Results 61 to 70 of about 30,899,280 (234)
iMeta, EarlyView.The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li +29 more
wiley +1 more source
Abordaje clínico de variantes fenotípicas en neurofibromatosis de tipo 1 [PDF]
, 2019 Neurofibromatosis type 1 is an autosomal dominant disorder, with multisystemic affectation and high phenotypic variation, caused by NF1 mutation in the locus 17 q11.2 that codes for neurofibromin.The estimated prevalence of people affected by this ...
López, Jairo Enrique +1 more
core
JCPP Advances, EarlyView.Abstract Background Differences in Frontal Alpha Asymmetry (FAA), derived from the electroencephalogram (EEG), have been associated with approach‐withdrawal behavior, although inconsistently. The current study examined how early patterns of FAA during the first 2 years of life relate to various socioemotional characteristics (at 2 years) and ultimately
Viviane Valdes +3 more
wiley +1 more source
Epidemiological Analysis of Major Complications Requiring Medical Intervention in Patients with Neurofibromatosis 1 [PDF]
Neurofibromatosis 1 has various complications. To elucidate the frequency of neurofibromatosis 1-related major complications requiring medical intervention, a nationwide retrospective study was conducted of 3,530 patients with neurofibromatosis 1 ...
70335975 +19 more
core +1 more source
Biallelic Mismatch Repair Deficiency in an Adolescent Female
Case Reports in Genetics, 2018 Constitutional (Biallelic) Mismatch Repair Deficiency is a rare autosomal recessive disorder characterized by numerous cancers presenting as early as the first decade of life.
Amber Hildreth +6 more
doaj +1 more source
The FGF/FGFR System in the Biology and Therapeutic Landscape of Pediatric CNS Tumors
Medicinal Research Reviews, EarlyView.ABSTRACT Central nervous system (CNS) tumors are the most common solid malignancies in children, comprising a highly heterogeneous group of neoplasms defined by distinct molecular alterations and clinical behaviors. Advances in molecular genetics have underscored the relevance of specific signaling pathways in driving pediatric tumorigenesis, among ...
Serena Filiberti +6 more
wiley +1 more source
A Rare Cause of Pheochromocytoma; Neurofibromatosis Type 1-Noonan Syndrome
, 2014 Neurofibromatosis (NF) Type 1 (NF-1) is an autosomal dominant disease with a prevalence of about 1/3000. NF-1 is a neurocutaneous syndrome characterized by cafe au lait macules, neurofibroma, optic glioma, lisch nodules, and symptoms involving other ...
Ersen Karakılıç +7 more
core +1 more source
Neuroprotection, EarlyView.Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji +4 more
wiley +1 more source
Breast cancer risk (un)awareness among women suffering from neurofibromatosis type 1 in Poland
, 2020 The main goal of this study was to draw the attention of physicians to commonly undisclosed risk of breast cancer (BrCa) in women suffering from neurofibromatosis type 1 (NF-1), which is 5-fold higher than in the general population.
Marek W. Karwacki
core +1 more source
Targeting KRAS for cancer therapy
British Journal of Pharmacology, EarlyView.In recent years, therapeutics targeted against KRAS proto‐oncogene GTPase (KRAS)‐mutant cancers have seen significant progress. Herein we outline the biology and epidemiology of KRAS alterations at the lineage and allele levels, reviewing the clinical evidence for KRASG12C inhibition from the discovery of the recessive switch pocket to sotorasib ...
Jianlong Jia +4 more
wiley +1 more source