Results 51 to 60 of about 248 (159)

Loss of EPB41L3: a common molecular link in the tumorigenesis of neurofibromatosis types 1 and 2

Frontiers in Oncology
BackgroundNeurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2) are autosomal dominant disorders that originate from Schwann cells and are characterized by the development of benign and malignant tumors, respectively.
Erxing Tao, Lin Zhou, Lin Zhou, Zhicheng Xu, Hui Ren, Junyu Yang, Yiming Chen, Qi Wang, Min Liu, Yanfei Zhang, Wei Liang, Siyi Xu, Chunlong Zhong, Zhigang Wang   +13 more
doaj   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

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, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +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, Ruonan Liu, Tonia A. Adamide, Isis E. Fernandez, Georgios T. Stathopoulos   +4 more
wiley   +1 more source

Genetic Spectrum of Non‐PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort

Clinical Genetics, EarlyView.
Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova, Olga Shatokhina, Daria Guseva, Nina Demina, Aleksander Polyakov, Oхana Ryzkova   +5 more
wiley   +1 more source

Learning disability and oligodendrocyte myelin glycoprotein (OMGP) gene in neurofibromatosis type 1

The Turkish Journal of Pediatrics, 2011
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease where phenotypic heterogeneity is explained by the effect of modifier genes. Thirty to 65% of patients have learning disability.
Yunus Kasim Terzi, Sibel Oğuzkan-Balci, Banu Anlar, Emel Erdoğan-Bakar, Sükriye Ayter   +4 more
doaj  

Structural and functional peculiarities of spine deformity development in neurofibromatosis NF-1

Бюллетень сибирской медицины, 2010
To study pathogenetic mechanisms of the development of spinal deformity in neurofibromatosis.Structural components of the spine were presented as specimens obtained after surgical correction of spinal deformity performed in 10 children with III—IV grade ...
A. M. Zaidman, M. V. Mikhailovsky, Ye. L. Zaviyalova, V. A. Suzdalov, M. A. Sadovoy   +4 more
doaj   +1 more source

Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children

Developmental Medicine &Child Neurology, EarlyView.
In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng, Bahda Hoang, Meaghan Rubsam, Gabriela Lopez, Megan K. O'Brien, Theresa Sukal‐Moulton, Barbara Sargent, Colleen Peyton, Elizabeth Hoffman, Samuel Carey, Nicole Pouppirt, Raye‐Ann de Regnier, John A. Rogers, Richard L. Lieber, Arun Jayaraman   +14 more
wiley   +1 more source

Accelerated long‐term forgetting in children with neurofibromatosis type 1

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To investigate the presence of accelerated long‐term forgetting after a 7‐day delay in children with neurofibromatosis type 1 (NF1), using an adapted verbal memory recall task, Experimental Word Recall Task (EWRT), and to examine its relationship with other cognitive abilities.
Jessica Habib, Melanie Porter, Jonathan M Payne, Shelley Arnold, Kristina M Haebich, Dinberu Shebeshi, Suncica Lah, Michael Gascoigne, Natalie A Pride   +8 more
wiley   +1 more source

Severe Untreated Scoliosis and Early Onset Breast Cancer in a Patient with Neurofibromatosis Associated with a Nonsense Variant of NF1 Gene

Orthopedic Research and Reviews, 2023
Vivian Reinhold,1 Antti Saarinen,2 Eetu Suominen,2 Stina Syrjänen,3,4 Minna Kankuri-Tammilehto1,5 1Institute of Biomedicine, University of Turku, Turku, Finland; 2Department of Paediatric Orthopaedic Surgery, University of Turku and Turku University ...
Reinhold V, Saarinen A, Suominen E, Syrjänen S, Kankuri-Tammilehto M   +4 more
doaj  

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source