Results 101 to 110 of about 23,942 (228)

Somatic neurofibromatosis type 1 (NF1) inactivation characterizes NF1-associated pilocytic astrocytoma [PDF]

, 2012
Low-grade brain tumors (pilocytic astrocytomas) arising in the neurofibromatosis type 1 (NF1) inherited cancer predisposition syndrome are hypothesized to result from a combination of germline and acquired somatic NF1 tumor suppressor gene mutations ...
Demeter, Ryan, Ding, Li, Fulton, Lucinda L, Fulton, Robert S, Guha, Abhijit, Gutmann, David H, Hussain, Ibrahim, Kandoth, Cyriac, Leonard, Jeffrey R, Magrini, Vincent, Mardis, Elaine R, McLellan, Michael D, Miller, Christopher A, Wallis, John W, Wylie, Todd   +14 more
core   +2 more sources

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +1 more source

Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review

BMC Medical Genomics
About 5–10% of neurofibromatosis type 1 (NF1) patients exhibit large genomic germline deletions that remove the NF1 gene and its flanking regions. The most frequent NF1 large deletion is 1.4 Mb, resulting from homologous recombination between two low ...
Laurence Pacot, Milind Girish, Samantha Knight, Gill Spurlock, Vinod Varghese, Manuela Ye, Nick Thomas, Eric Pasmant, Meena Upadhyaya   +8 more
doaj   +1 more source

Biomarkers in Vestibular Schwannoma–Associated Hearing Loss

Frontiers in Neurology, 2019
Vestibular schwannomas (VSs) are benign tumors composed of differentiated neoplastic Schwann cells. They can be classified into two groups: sporadic VS and those associated with neurofibromatosis type 2 (NF2).
Luis Lassaletta, Luis Lassaletta, Luis Lassaletta, Miryam Calvino, Miryam Calvino, Jose Manuel Morales-Puebla, Pablo Lapunzina, Pablo Lapunzina, Pablo Lapunzina, Lourdes Rodriguez-de la Rosa, Lourdes Rodriguez-de la Rosa, Lourdes Rodriguez-de la Rosa, Isabel Varela-Nieto, Isabel Varela-Nieto, Isabel Varela-Nieto, Victor Martinez-Glez, Victor Martinez-Glez, Victor Martinez-Glez   +17 more
doaj   +1 more source

Merlin Phosphorylation by p21-activated Kinase 2 and Effects of Phosphorylation on Merlin Localization [PDF]

, 2002
The Nf2 tumor suppressor gene product merlin is related to the membrane-cytoskeleton linker proteins of the band 4.1 superfamily, including ezrin, radixin, and moesin (ERMs). Merlin is regulated by phosphorylation in a Rac/cdc42-dependent fashion.
Eckman, Matthew S., Jacks, Tyler, Johnson, Kristen C., Kissil, Joseph L.   +3 more
core   +1 more source

The molecular basis of T cell acute lymphoblastic leukemia [PDF]

, 2012
T cell acute lymphoblastic leukemias (T-ALLs) arise from the malignant transformation of hematopoietic progenitors primed toward T cell development, as result of a multistep oncogenic process involving constitutive activation of NOTCH signaling and ...
Adolfo Ferrando, Bash, Bash, Chen, Condorelli, Dube, Fisch, Hagemeijer, Hebert, Ho, Kelliher, Kikuchi, Larson, Lu, McGuire, McGuire, Nagel, Ntziachristos, Ntziachristos, Ono, Pieter Van Vlierberghe, Royer-Pokora, Rubnitz, van Grotel   +23 more
core   +1 more source

Pancreatic Neuroendocrine Tumor Leading to a Diagnosis of Multiple Endocrine Neoplasia Type 1

DEN Open, Volume 6, Issue 1, April 2026.
ABSTRACT Pancreatic neuroendocrine neoplasms are rare but occasionally encountered. They are generally highly vascularized solid tumors, often round in shape with clear boundaries, defined contours, and a homogeneous internal structure. However, they can also present with atypical features, such as cystic degeneration, hemorrhage, calcification, and ...
Noriyuki Hirakawa, Katsuya Kitamura, Kei Yamamoto, Kenichi Tadokoro, Yasunosuke Akita, Jun Uemura, Fumito Yamanishi, Masakazu Abe, Munehide Nakatsugawa, Takao Itoi   +9 more
wiley   +1 more source

Challenges in drug discovery for neurofibromatosis type 1-associated low-grade glioma [PDF]

, 2016
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that results from germline mutations of the NF1 gene, creating a predisposition to low-grade gliomas (pilocytic astrocytoma; PA) in young children. Insufficient data and resources represent
Gutmann, David H, Keller, Charles, Pan, Yuan, Ricker, Cora A   +3 more
core   +3 more sources

Socially oriented attention in young children with neurofibromatosis type 1: An eye‐tracking study

Developmental Medicine &Child Neurology, Volume 68, Issue 4, Page 541-548, April 2026.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70050 Abstract Aim To examine visual engagement to social stimuli and response to joint attention in young children with neurofibromatosis type 1 (NF1) and typically developing peers (controls). Method Forty‐five preschool children were studied cross‐sectionally (mean age [SD] = 4 
Kristina M. Haebich, Darren R. Hocking, Hayley Darke, Rachel Mackenzie, Kathryn N. North, Giacomo Vivanti, Jonathan M. Payne   +6 more
wiley   +1 more source

NF2: An underestimated player in cancer metabolic reprogramming and tumor immunity

npj Precision Oncology
Neurofibromatosis type 2 (NF2) is a tumor suppressor gene implicated in various tumors, including mesothelioma, schwannomas, and meningioma. As a member of the ezrin, radixin, and moesin (ERM) family of proteins, merlin, which is encoded by NF2 ...
Duo Xu, Shiyuan Yin, Yongqian Shu
doaj   +1 more source