Results 61 to 70 of about 19,490 (162)

Evidence That the Protein Phosphatase Activity of PTEN Contributes to Embryonic Development and Tumor Suppression

Cancer Science, EarlyView.
Mice expressing only mutant PTEN Y138L, a protein which shows normal suppression of cellular AKT yet lacks protein phosphatase activity, die in utero, and heterozygous mice display a range of tumors. This indicates both the lipid and protein phosphatase activities of PTEN work together for normal tumor suppression and embryonic development.
Priyanka Tibarewal, Laura Spinelli, Nisha Kriplani, Helen Wise, Nadege Poncet, Giulia Marzano, Karen E. Anderson, Katarzyna M. Grzes, Zofia Varyova, Mahreen Adil, C. Peter Downes, Phillip T. Hawkins, Len R. Stephens, Kate G. Storey, Doreen A. Cantrell, Bart Vanhaesebroeck, Nicholas R. Leslie   +16 more
wiley   +1 more source

Seromucinous hamartoma with unique clinical and histopathological features: a case report and review of the literature

Journal of Medical Case Reports
Background We present this case to highlight the importance of considering seromucinous hamartoma in the differential diagnosis of nasal cavity lesions, particularly due to its rarity and potential for being mistaken for more aggressive pathologies ...
Mikhael Makhoul, Nadim Khoueir, Myriam Khneisser, Hussein Nassereddine   +3 more
doaj   +1 more source

Importance of NAB2-STAT6 Fusion in the Diagnosis of Pancreatic Solitary Fibrous Tumor with Hamartoma-Like Features: A Case Report and Review of the Literature

Case Reports in Pathology, 2015
We report a case of pancreatic hamartoma-like solitary fibrous tumor which was differentiated from pancreatic hamartoma with the detection of NAB2-STAT6 fusion, a specific mutation for solitary fibrous tumors.
Kei Tanaka, Takashi Kishimoto, Masayuki Ohtsuka, Yukio Nakatani, Masaru Miyazaki   +4 more
doaj   +1 more source

Sleep profiles in individuals with rare neurogenetic syndromes

Developmental Medicine &Child Neurology, EarlyView.
Aim To characterize sleep profiles in individuals with neurogenetic disorders (NGDs) and examine the contribution of key clinical and psychiatric symptoms to these profiles. Method The parents of 248 individuals (aged 3–45 years) diagnosed with a range of NGDs, including PTEN hamartoma tumor syndrome (n = 111), SYNGAP1‐related intellectual disability ...
Isabella C. Reyes, Thomas W. Frazier, Antonio Y. Hardan, Lacey Chetcuti, Samuel J. R. A. Chawner, Emily Spackman, Mirko Uljarević, Emma K. Baker   +7 more
wiley   +1 more source

Pathophysiology of developmental and/or epileptic encephalopathy with spike–wave activation in sleep: A diagnostic framework

Developmental Medicine &Child Neurology, EarlyView.
This review integrates emerging evidence on the pathophysiology of D/EE‐SWAS, highlighting the role of disrupted sleep homeostasis and thalamocortical network dysfunction. We propose a clinically applicable diagnostic framework that combines sleep EEG, structural imaging, genomic testing and longitudinal neuropsychological assessment to improve ...
Aysha Rasheed, Shivani Sekar, Rameez Naqvi, Manidipa Dutta, Manal Issa, Angeliki Menounou, Deepa Krishnakumar, Thiloka Ratnaike   +7 more
wiley   +1 more source

HYBRID SCINTIGRAPHY OF RARE SPLENIC HAMARTOMA

Journal of Cancer and Allied Specialties, 2018
Splenic hamartoma, also known as splenoma, splenic adenoma or nodular hyperplasia, is a rare benign splenic tumor. It is composed of disordered vascular channels with abnormal mixture of red or white splenic pulp.
Mairah Razi, Humayun Bashir, Zia Salman Faruqui   +2 more
doaj   +1 more source

HMGA2 is a highly sensitive marker for DICER1‐related tumours

Histopathology, EarlyView.
Aims DICER1 is a microRNA biogenesis enzyme that, when mutated, results in a rewiring of the transcriptome. Germline pathogenic variants (PVs) in DICER1 result in DICER1‐related tumour predisposition (DRTP) characterized by 30 or more different, generally rare, paediatric or adolescent‐onset tumours.
Paul S. Thorner, Anne‐Laure Chong, Naciba Benlimane, Lili Fu, Marc R. Fabian, William D. Foulkes   +5 more
wiley   +1 more source

Levodopa‐Responsive Parkinsonism Preceded by Isolated Upper Limb Tremor Associated with PTEN Variant

Movement Disorders Clinical Practice, EarlyView.
Sacha E. Gandhi, Rekha Siripurapu, Audrey Smith, Christopher Kobylecki   +3 more
wiley   +1 more source

Oral Rhabdomyomatous Hamartoma in a Paediatric Patient: Case Report a Rare Lesion

International Journal of Paediatric Dentistry, EarlyView.
ABSTRACT Background Rhabdomyomatous hamartoma is a rare congenital lesion, usually described on the face and neck and infrequently found in the oral cavity. Because its clinical presentation is non‐specific, histopathological examination plays a fundamental role in establishing the final diagnosis and determining appropriate therapeutic management ...
Érika Machado do Carmo Albuquerque, Letícia Albuquerque Rodrigues, Gislayne Nunes de Siqueira, Marcelo Bonifácio da Silva Sampieri, Filipe Nobre Chaves, Denise Hélen Imaculada Pereira de Oliveira   +5 more
wiley   +1 more source

Building a precision therapeutics program at a tertiary care children's hospital

Pediatric Investigation, EarlyView.
Luke Hamilton, Heidi Trinkman, Diana Carrasco, Kaitlin Smith, Kelly Vallance, Alejandra Dominguez, Danielle Miller, Megan Gibbs, Anish Ray   +8 more
wiley   +1 more source