Results 101 to 110 of about 67,683 (260)

Neurofibromin haploinsufficiency results in altered spermatogenesis in a mouse model of neurofibromatosis type 1.

PLoS ONE, 2018
The fertility of men with neurofibromatosis 1 (NF1) is reduced. Despite this observation, gonadal function has not been examined in patients with NF1. In order to assess the role of reduced neurofibromin in the testes, we examined testicular morphology ...
Harleen Chohan, Mitra Esfandiarei, Darian Arman, Catherine D Van Raamsdonk, Cornelis van Breemen, Jan M Friedman, Kimberly A Jett   +6 more
doaj   +1 more source

Clonal lineage of high grade serous ovarian cancer in a patient with neurofibromatosis type 1

Gynecologic Oncology Reports, 2018
Neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene encoding neurofibromin, which negatively regulates Ras signaling. NF1 patients have an increased risk of developing early onset breast cancer, however, the association between NF1 and ...
Eric J. Norris, Wendell D. Jones, Marius D. Surleac, Andrei J. Petrescu, Darla Destephanis, Qing Zhang, Issam Hamadeh, Jeffrey S. Kneisl, Chad A. Livasy, Ram N. Ganapathi, David L. Tait, Mahrukh K. Ganapathi   +11 more
doaj   +1 more source

Multiplicity fluctuation and correlation of mesons and baryons in ultra-relativistic heavy-ion collisions at LHC

, 2017
We study the multiplicity fluctuation and correlation of identified mesons and baryons formed at the hadronization by the quark combination mechanism in the context of ultra-relativistic heavy-ion collisions. Based on the statistical method of free quark
Li, Hai-hong, Shao, Feng-lan, Song, Jun
core   +1 more source

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review

Prenatal Diagnosis, EarlyView.
ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim, Alexander Gibbs, Elizabeth Scotchman, Graeme Smith, Lyn S. Chitty, Natalie J. Chandler   +5 more
wiley   +1 more source

Pharmacological inhibition of RAS pathway alleviates spine deformity in a mouse model of neurofibromatosis type 1

Bone Research
Neurofibromatosis type 1 (NF1) is a genetic disorder affecting 1 in 3 000 people due to heterozygous mutations in the NF1 gene. Patients with NF1 can develop multiple symptoms, such as neurofibromas, skin hyperpigmentation, and bone abnormalities ...
Franceska Kovaci, Cassandre Goachet, Simon Perrin, Lotfi Slimani, Fanny Coulpier, Françoise Tilotta, Piotr Topilko, Céline Colnot   +7 more
doaj   +1 more source

Multi‐level fatigue reliability assessment of reinforced concrete railway bridges

Structural Concrete, EarlyView.
Abstract This paper presents a multi‐level reliability framework for assessing the fatigue life of reinforced concrete (RC) railway trough bridges subjected to cyclic loading. The framework incorporates increasing levels of analytical complexity and real‐world data in four steps. First, an analytical model applies S–N curves and the Palmgren–Miner rule
Silvia Sarmiento, Jaime Gonzalez‐Libreros, Chao Wang, Lennart Elfgren, Ola Enoksson, Tommy Höjsten, Lars‐Olof Andersson, Gabriel Sas   +7 more
wiley   +1 more source

NF1 expression profiling in IDH-wildtype glioblastoma: genomic associations and survival outcomes

Acta Neuropathologica Communications
Background NF1 inactivation is associated with sensitivity to MEK inhibitor targeted therapy in low-grade and some high-grade gliomas. NF1 loss may also be a harbinger of exploitable vulnerabilities in IDH-wildtype glioblastoma (GBM).
Michael Chang, Mohamed Sherief, Maria Ioannou, Viveka Chinnasamy, Lucy Chen, Michael Frost, Michelle Mattson-Hoss, Herb Sarnoff, David O. Kamson, Matthias Holdhoff, Debraj Mukherjee, Chetan Bettegowda, Jordina Rincon-Torroella, Victoria Croog, Peng Huang, Fausto J. Rodriguez, Calixto-Hope G. Lucas, Karisa C. Schreck   +17 more
doaj   +1 more source

Myeloablative Busulfan, Fludarabine and Melphalan Conditioning for Allogeneic Hematopoietic Stem Cell Transplantation in Childhood Myeloid Malignancy

Asia-Pacific Journal of Clinical Oncology, EarlyView.
We report our single‐center experience of transplant outcomes with a busulfan, fludarabine and melphalan‐based conditioning regimen for children < 18 years of age. The regimen was shown to be well tolerated and effective for heavily pretreated children with high‐risk myeloid malignancies prior to allogeneic hematopoietic stem cell transplant.
Mayank Dhamija, Fiona Kerr, Hazel Gough, Johnathan Soggee, Laurence C. Cheung, Rishi S. Kotecha, Shanti Ramachandran   +6 more
wiley   +1 more source

Impact of Surgical Approach on Survival and Recurrence in Borderline and Malignant Phyllodes Tumours: A Systematic Review and Meta‐Analysis

ANZ Journal of Surgery, EarlyView.
ABSTRACT Background Phyllodes tumours of the breast exhibit a spectrum of biologic behaviour, with a predisposition to recur locally and metastasize distantly in their malignant form. There are limited data regarding the optimal surgical approach. Objectives Our systematic review and meta‐analysis aimed to determine the impact of breast conserving ...
Christopher G. Harris, Gillian Heller, Farhad Azimi, Belinda Chan, Susannah Graham, Cindy Mak, Sanjay Warrier   +6 more
wiley   +1 more source

Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene

Genomics, 2005
Neurofibromatosis type 1 (NF1) microdeletion syndrome is caused by haploinsufficiency of the NF1 gene and of gene(s) located in adjacent flanking regions. Most of the NF1 deletions originate by nonallelic homologous recombination between repeated sequences (REP-P and -M) mapped to 17q11.2, while a few uncommon deletions show unusual breakpoints.
C. Gervasini, M. Venturin, F. Orzan, A. Friso, M. Clementi, R. Tenconi, L. Larizza, P. Riva   +7 more
openaire   +4 more sources