Results 51 to 60 of about 24,558 (240)

The neurofibromatosis type 1 gene and its protein product, neurofibromin [PDF]

Neuron, 1993
Von Recklinghausen neurofibromatosis, or neurofibromatosis type 1 (NFI), affects approximately 1 in 3500 individuals of all ethnic backgrounds. It is inherited as an autosomal dominant disease and is manifested clinically by abnormalities that predominantly affect tissues which derive from the neural crest (Riccardi, 1981,199l; Riccardi and Eichner ...
Gutmann, David H., Collins, Francis S.
openaire   +3 more sources

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

TYK2 promotes malignant peripheral nerve sheath tumor progression through inhibition of cell death [PDF]

, 2019
BACKGROUND: Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive sarcomas that arise most commonly in the setting of the Neurofibromatosis Type 1 (NF1) cancer predisposition syndrome.
Bu, Xianzhang, Godec, Abigail, Hirbe, Angela C, Qin, Wenjing, Shao, Jieya, Tao, Yu, Zhang, Xiaochun, Zhu, Cuige   +7 more
core   +2 more sources

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Living on soup:Macropinocytic feeding in amoebae [PDF]

, 2019
Macropinocytosis is used by a variety of amoebae for feeding on liquid medium. The amoebae project cups and ruffles from their plasma membrane, driven by actin polymerization, and eventually fuse these back to the membrane, entrapping droplets of medium ...
Kay, Robert R., Manton, James D., Paschke, Peggy, Traynor, David, Williams, Thomas D.   +4 more
core   +2 more sources

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1

Pharmacogenomics and Personalized Medicine, 2022
Lina Perafan-Valdes,1,2 Sebastian Giraldo-Ocampo,3 Juliana Lores,2 Harry Pachajoa2,4 1Universidad Libre, Programa de Maestría en Epidemiología, Cali, Colombia; 2Fundación Valle del Lili, Genetics Division, Cali, Colombia; 3Universidad del Valle ...
Perafan-Valdes L, Giraldo-Ocampo S, Lores J, Pachajoa H   +3 more
doaj  

Biphenotypic Sinonasal Sarcoma-Case Report and Review of Clinicopathological Features and Diagnostic Modalities. [PDF]

, 2019
Background Biphenotypic sinonasal sarcoma is a recently described malignancy showing dual differentiation with both myogenic and neural elements. Due to its histologic similarities to other sinonasal malignancies, it is a diagnostic challenge.
Chitguppi, Chandala, Collura, Kaitlin, Curtis, Mark, Koszewski, Ian, Nyquist, Gurston G., Rabinowitz, Mindy R., Rosen, Marc   +6 more
core   +2 more sources

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Neurofibromatosis: chronological history and current issues Neurofibromatose: histórico cronológico e aspectos atuais

Anais Brasileiros de Dermatologia, 2013
Neurofibromatosis, which was first described in 1882 by Von Recklinghausen, is a genetic disease characterized by a neuroectodermal abnormality and by clinical manifestations of systemic and progressive involvement which mainly affect the skin, nervous ...
João Roberto Antônio, Eny Maria Goloni-Bertollo, Lívia Arroyo Trídico   +2 more
doaj