Results 101 to 110 of about 264 (130)

A case of PTPN11 mutation-related Noonan syndrome

Journal of Clinical Images and Medical Case Reports, 2022
Noonan Syndrome (NS) is an autosomal dominant disorder in which parents with Noonan syndrome have a 50percent chance of passing the mutation to their children, most commonly due to a mutation in the PTPN11 gene. In a clinical case, we identified a male child who showed clinical features such as short stature, congenital heart disease and a peculiar ...
Xiao Jiang, Xiaotong Gu, Pengqian Li
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PTPN11 gene mutation associated with abnormal gonadal determination

American Journal of Medical Genetics Part A, 2011
AbstractGermline mutations in thePTPN11gene have been associated with Noonan syndrome (NS) and LEOPARD syndrome. Both germline and somatic mutations in this gene have been reported in association with malignancies. However, theT507Kmutation in thePTPN11gene, has only been reported in malignancies and in a fetus with hydrops fetalis but not in a live ...
Shailly, Jain Ghai, Sarah, Keating, David, Chitayat   +2 more
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Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation

Pediatric Blood & Cancer, 2008
AbstractAlthough Noonan syndrome (NS) is occasionally associated with embryonal solid tumors, there has been no report of hepatoblastoma in NS. We identified hepatoblastoma spreading into bilateral hepatic lobes in a 1‐month‐old NS patient with a heterozygous PTPN11 mutation (Asn308Asp).
Rie, Yoshida, Tsutomu, Ogata, Nobuhide, Masawa, Toshiro, Nagai   +3 more
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Germ-line and somatic PTPN11 mutations in human disease

European Journal of Medical Genetics, 2005
Reversible protein tyrosyl phosphorylation of cell surface receptors and downstream intracellular transducers is a major regulatory mechanism used to modulate cellular responses to extracellular stimuli, and its deregulation frequently drives aberrant cell proliferation, survival and/or differentiation.
Marco, Tartaglia, Bruce D, Gelb
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Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis

Blood, 2004
The PTPN11 gene encodes SHP-2 (Src homology 2 domain-containing protein tyrosine Phosphatase), a nonreceptor tyrosine protein tyrosine phosphatase (PTPase) that relays signals from activated growth factor receptors to p21Ras (Ras) and other signaling molecules.
Mignon L, Loh, Shashaank, Vattikuti, Suzanne, Schubbert, Melissa G, Reynolds, Elaine, Carlson, Kenneth H, Lieuw, Jennifer W, Cheng, Connie M, Lee, David, Stokoe, Jeannette M, Bonifas, Nicole P, Curtiss, Jason, Gotlib, Soheil, Meshinchi, Michelle M, Le Beau, Peter D, Emanuel, Kevin M, Shannon   +15 more
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Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome

Human Genetics, 2002
CFC (cardiofaciocutaneous) syndrome (MIM 115150) has been considered by several authors to be a more severe expression of Noonan syndrome. Affected patients present with congenital heart defects, cutaneous abnormalities, Noonan-like facial features and severe psychomotor developmental delay.
Ion, A., Tartaglia, M., Song, X., Kalidas, K., Burgt, C.J.A.M. van der, Shaw, A., Ming, J.E., Zampino, G., Zackai, E.H., Dean, J., Somer, M., Parenti, G., Crosby, A., Patton, M.A., Gelb, B.D., Jeffery, S.   +15 more
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The Clinical impact of PTPN11 mutations in adults with acute myeloid leukemia

Leukemia, 2020
While germline and somatic mutations in the gene PTPN11, encoding a phosphatase which regulates the RAS signaling pathway, are well characterized in children with Noonan syndrome and juvenile myelomonocytic leukemia, less is known about their clinical impact in adults with acute myeloid leukemia (AML).
Mansour Alfayez, Ghayas C. Issa, Keyur P. Patel, Feng Wang, Xuemei Wang, Nicholas J. Short, Jorge E. Cortes, Tapan Kadia, Farhad Ravandi, Sherry Pierce, Rita Assi, Guillermo Garcia-Manero, Courtney D. DiNardo, Naval Daver, Naveen Pemmaraju, Hagop Kantarjian, Gautam Borthakur   +16 more
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Mutations of the PTPN11 Gene in Childhood Hematological Malignancies.

Blood, 2004
Abstract The PTPN11 gene encodes SHP2, which is a protein tyrosine phosphatase functioning as signal transducer downstream to growth factors and cytokine receptors and its function is mediated, at least in part, through the Ras/Raf/ERK cascade in hematopoietic and non-hematopoietic cells.
Yasuhide Hayashi, Mizuho Ogasawara, Tomohiko Taki, Masahiro Sako, Kenichi Sugita, Masahiro Tsuchida, Akira Kikuchi, Ryoji Hanada, Mitsuteru Hiwatari, Junko Takita, Yuyan Chen   +10 more
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[PTPN11 gene mutation in LEOPARD syndrome].

Minerva pediatrica, 2006
The multiple lentigines/LEOPARD syndrome (ML/LS) is a rare and complex genetic syndrome. It is an autosomal dominant disorder with a variable expressivity. The syndrome is mainly characterised by growth retardation, multiple lentigines, and congenital heart diseases with electrocardiographic anomalies, dysmorphia of the face and deafness. The incidence
M, Paradisi, C, Pedicelli, A, Ciasulli, F, Pinto, E, Conti, A, Sarkozy, C, Angelo   +6 more
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Mild variable Noonan syndrome in a family with a novel PTPN11 mutation

European Journal of Medical Genetics, 2007
Noonan syndrome (OMIM 163950) is a common genetic condition with variable clinical expression and genetic heterogeneity. About half of the cases can be accounted to activating mutations in the PTPN11 gene encoding SHP-2. We report on a family with mild, variable expression of Noonan syndrome in five individuals.
Martin, Zenker, Egbert, Voss, André, Reis   +2 more
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