Results 111 to 120 of about 2,445,354 (228)

Shp2 function in hematopoietic stem cell biology and leukemogenesis [PDF]

, 2012
PURPOSE OF REVIEW: The protein tyrosine phosphatase Shp2 is encoded by PTPN11 and positively regulates physiologic hematopoiesis. Mutations of PTPN11 cause the congenital disorder Noonan syndrome and pathologically promote human leukemias. Given the high
Chan, Rebecca J., Nabinger, Sarah C.
core   +1 more source

[LEOPARD syndrome: A variant of Noonan syndrome with lentigines].

Anales de Pediatría, 2018
Paciente de 3 años que acude a consulta no demorable de atención primaria por fiebre y catarro de vías altas. A la exploración presenta talla baja y facies dismórfica con hipertelorismo, raíz nasal ancha e implantación baja de orejas, además de testes en
Eloísa de Santiago García-Caro, Ana Pozo Guzmán, E. M. Moreno Medinilla   +2 more
semanticscholar   +1 more source

Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children

The Turkish Journal of Pediatrics, 2011
. LEOPARD syndrome 2 (LS-2) (OMIM #611554) is a rare, dominantly inherited genetic disorder affecting multiple organ systems. We report two unrelated females of different ages whose phenotype fits best in the category of LEOPARD syndrome, both ...
Vladimir Kuburović, Vladislav Vukomanović, Atilano Carcavilla, Begona Ezquieta-Zubicaray, Nina Kuburović   +4 more
doaj  

Targeted Disruption of Shp2 in Chondrocytes Leads to Metachondromatosis With Multiple Cartilaginous Protrusions [PDF]

, 2014
Metachondromatosis is a benign bone disease predominantly observed in the hands and feet of children or young adults demonstrating two different manifestations: a cartilage‐capped bony outgrowth on the surface of the bone called exostosis and ectopic ...
Chen, Di, Feng, Gen‐sheng, Kamiya, Nobuhiro, Kim, Harry KW, King, Philip D   +4 more
core   +2 more sources

Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome. [PDF]

, 2014
In Noonan syndrome (NS) 30-50% of subjects show cognitive deficits of unknown etiology and with no known treatment. Here, we report that knock-in mice expressing either of two NS-associated mutations in Ptpn11, which encodes the nonreceptor protein ...
Araki, Toshiyuki, Balaji, J, Burger, Corinna, Butz, Delana, Cai, Ying, Ehninger, Dan, Kaang, Bong-Kiun, Kang, Minkyung, Kim, Hyong Kyu, Kwak, Chuljung, Lee, Yong-Seok, Nam, Christine I, Neel, Benjamin G, Oh, Jun-Young, Ryu, Hyun-Hee, Sano, Yoshitake, Silva, Alcino J, Zhou, Miou   +17 more
core   +2 more sources

Noonan syndrome: from phenotype to growth hormone therapy [PDF]

A síndrome de Noonan (SN) é uma síndrome genética comum que constitui importante diagnóstico diferencial em pacientes com baixa estatura, atraso puberal ou criptorquidia. A SN apresenta grande variabilidade fenotípica e é caracterizada principalmente por
ARNHOLD, Ivo J. P., FERREIRA, Lize V., JORGE, Alexander A. L., MALAQUIAS, Alexsandra C., MENDONÇA, Berenice B., SOUZA, Silvia C.   +5 more
core   +1 more source

The paradox of cancer genes in non-malignant conditions: implications for precision medicine. [PDF]

, 2020
Next-generation sequencing has enabled patient selection for targeted drugs, some of which have shown remarkable efficacy in cancers that have the cognate molecular signatures.
Adashek, Jacob J, Kato, Shumei, Kurzrock, Razelle, Lippman, Scott M   +3 more
core  

LEPOARD syndrome: A report of a case with a novel PTPN11 mutation

JAAD Case Reports, 2021
Nader Rahal, MD, Amir Sadi, MD, Eran Cohen-Barak, MD, Michael Ziv, MD, Judit Krausz, MD, Roni P. Dodiuk-Gad, MD   +5 more
doaj   +1 more source

RASopathy in Patients With Isolated Sagittal Synostosis

Global Pediatric Health, 2019
RASopathy is caused by dysfunction in the MAPK pathway, and include syndromes like Noonan syndrome (NS), NS with multiple lentigines (formerly known as Leopard syndrome), cardiofaciocutaneous (CFC), Legius syndrome, capillary malformation–arteriovenous ...
Amani Ali Davis BA, Giulio Zuccoli MD, Mostafa M. Haredy MD, Joseph Losee MD, Ian F. Pollack MD, Suneeta Madan-Khetarpal MD, Jesse A. Goldstein MD, Ken K. Nischal MD   +7 more
doaj   +1 more source

Age-related retinal degeneration resulting from the deletion of Shp2 tyrosine phosphatase in photoreceptor neurons

Cell Death and Disease
Shp2, a critical SH2-domain-containing tyrosine phosphatase, is essential for cellular regulation and implicated in metabolic disruptions, obesity, diabetes, Noonan syndrome, LEOPARD syndrome, and cancers.
Ammaji Rajala, Rahul Rajala, Mohd A. Bhat, Mark Eminhizer, Jeff Hao, Jianhai Du, Raju V. S. Rajala   +6 more
doaj   +1 more source