Results 81 to 90 of about 26,437 (217)

Tumor mutational burden as a determinant of metastatic dissemination patterns

Molecular Oncology, Volume 20, Issue 5, Page 1364-1378, May 2026.
This study performed a comprehensive analysis of genomic data to elucidate whether metastasis in certain organs share genetic characteristics regardless of cancer type. No robust mutational patterns were identified across different metastatic locations and cancer types.
Eduardo Candeal, Andrea Moreno‐Manuel, Miguel Salvadó‐Pertierra, Cristina Santos‐Vivas, Rebeca Sanz‐Pamplona   +4 more
wiley   +1 more source

Multiple roles for neurofibromin in skeletal development and growth [PDF]

Human Molecular Genetics, 2007
Neurofibromatosis type 1 (NF1) is a prevalent genetic disorder primarily characterized by the formation of neurofibromas, café-au-lait spots and freckling. Skeletal abnormalities such as short stature or bowing/pseudarthrosis of the tibia are relatively common.
Kolanczyk, M., Kossler, N., Kühnisch, J., Lavitas, L., Stricker, S., Wilkening, U., Manjubala, I., Fratzl, P., Spörle, R., Herrmann, B., Parada, L., Kornak, U., Mundlos, S.   +12 more
openaire   +5 more sources

Behavioral and Sleep Disorders in Neurofibromatosis

Pediatric Neurology Briefs, 2005
The behavior and sleep patterns of 64 children (mean age 10 years 7 months) with neurofibromatosis type 1 (NF1) were determined by mail and telephone questionnaire in a study at Park Hospital, University of Oxford, UK.
J Gordon Millichap
doaj   +1 more source

Neurofibromatosis in Children: Actually and Perspectives

Children, 2022
The three types of neurofibromatosis, namely type 1, type 2, and schwannomatosis, are generally associated with various benign tumors affecting the skin and the nervous system. On rare occasions, especially in patients with neurofibromatosis type 1 (NF1),
Maria Lucia Sur, Ionel Armat, Genel Sur, Diana-Cristina Pop, Gabriel Samasca, Iulia Lupan, Teodora-Larisa Timis, Ioan-Alexandru Florian, Daniel Sur   +8 more
doaj   +1 more source

A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity [PDF]

, 1993
Sequence analysis has shown significant homology between the catalytic regions of the mammalian ras GTPase-activating protein (GAP), yeast Ira1p and Ira2p (inhibitory regulators of the RAS-cyclic AMP pathway), and neurofibromin, the protein encoded by ...
Andersen, L. B., Ballester, R., Marchuk, D. A., Chang, E., Gutmann, D. H., Saulino, A. M., Camonis, J., Wigler, M. H., Collins, F. S.   +8 more
core   +1 more source

Co‐Occurrence of Agminated Lentigines, Café‐Au‐Lait Macules, and Vitiligo: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Lentigines, café‐au‐lait macules (CALMs), and vitiligo are pigmentary disorders that seldom occur together in a single individual. Their co‐occurrence may indicate underlying genetic syndromes requiring differential diagnosis. We report an 18‐year‐old male who developed CALMs at age 11, agminated lentigines at age 13, and vitiligo on the right
Xinxin Lei, Bo Xie
wiley   +1 more source

Neurofibromin (Nf1) is required for skeletal muscle development [PDF]

Human Molecular Genetics, 2011
Neurofibromatosis type 1 (NF1) is a multi-system disease caused by mutations in the NF1 gene encoding a Ras-GAP protein, neurofibromin, which negatively regulates Ras signaling. Besides neuroectodermal malformations and tumors, the skeletal system is often affected (e.g.
Kossler, N., Stricker, S., Rodelsperger, C., Robinson, P., Kim, J., Dietrich, C., Osswald, M., Kuhnisch, J., Stevenson, D., Braun, T., Mundlos, S., Kolanczyk, M.   +11 more
openaire   +3 more sources

an international symposium held in Pavia on July 4th, 2014 [PDF]

, 2014
New progresses into the molecular and cellular mechanisms of autism spectrum disorders (ASDs) have been discussed in 1 day international symposium held in Pavia (Italy) on July 4th, 2014 entitled “synapses as therapeutic targets for autism spectrum ...
Ben-Ari, Yehezkel, Bozzi, Yuri, Catania, Maria Vincenza, Cherubini, Enrico, Curatolo, Paolo, D’Angelo, Egidio, Mapelli, Lisa, Oberman, Lindsay M., Rosenmund, Christian   +8 more
core   +1 more source

MR‐Guided Laser Interstitial Thermal Therapy for Recurrent Glioblastoma: A Case Report With Novel Insights Into Histopathological Changes and Immunological Responses

Neuropathology and Applied Neurobiology, Volume 52, Issue 2, April 2026.
MR‐guided laser interstitial thermal therapy (LITT) offers a minimally invasive option for recurrent glioblastoma, but human post‐treatment tissue data are scarce. In this case report, post‐LITT tissue exhibited distinct zonal changes, including central necrosis within the ablation zone and reduced tumour proliferation with increased CD8+ T‐cell ...
Silas Haahr Nielsen, Sara Blaabjerg Artzi, Jane Skjøth‐Rasmussen, Carl Christian Larsen, Nadine Margaretha Hammouda, Karen Bonde Larsen, Rune Rasmussen, Adam Espe Hansen, Bjarne Winther Kristensen   +8 more
wiley   +1 more source

Gene expression analysis of aberrant signaling pathways in meningiomas [PDF]

, 2013
Examining aberrant pathway alterations is one method for understanding the abnormal signals that are involved in tumorigenesis and tumor progression. In the present study, expression arrays were performed on tumor-related genes in meningiomas.
Burbano, Rommel Rodríguez Rodríguez, Castresana, Javier Sáez, De Campos, José Maria, Isla-Guerrero, Alberto, Lassaletta, Luis, Martínez-Glez, Víctor, Meléndez, Bárbara, Peña-Granero, Carolina, Pinto, Giovanny R., Rey, Juan Antonio, Torres-Martín, Miguel   +10 more
core   +2 more sources