Results 31 to 40 of about 14,972 (184)

Somatic PTPN11 mutations in childhood acute myeloid leukaemia [PDF]

British Journal of Haematology, 2005
SummarySomatic mutations in PTPN11, the gene encoding the transducer SHP‐2, have emerged as a novel class of lesions that upregulate RAS signalling and contribute to leukaemogenesis. In a recent study of 69 children and adolescents with de novo acute myeloid leukaemia (AML), we documented a non‐random distribution of PTPN11 mutations among French ...
Tartaglia, Marco, Martinelli, Simone, Iavarone, Ivano, Cazzaniga, Giovanni, Spinelli, Monica, Giarin, Emanuela, Petrangeli, Valentina, Carta, Claudio, Masetti, Riccardo, Aricò, Maurizio, Locatelli, Franco, Basso, Giuseppe, Sorcini, Mariella, Pession, Andrea, Biondi, Andrea   +14 more
openaire   +4 more sources

A Patient With LEOPARD Syndrome and PTPN11 Mutation [PDF]

Circulation, 2009
We present the case of a 37-year-old woman with hypertrophic cardiomyopathy, initially diagnosed at 23 years of age. The leading clinical problem is chest pain and inappropriate shortness of breath under exertion. When the patient was presented to our outpatient clinic for the first time at the age of 34 years, the coincidence of multiple lentigines ...
Lorenz H. Lehmann, Tim Schaeufele, Sebastian J. Buss, Maria Balanova, Wolfgang Hartschuh, Philipp Ehlermann, Hugo A. Katus   +6 more
openaire   +1 more source

PTPN11 mutations in canine and human disseminated histiocytic sarcoma [PDF]

International Journal of Cancer, 2020
In humans, histiocytic sarcoma (HS) is an aggressive cancer involving histiocytes. Its rarity and heterogeneity explain that treatment remains a challenge. Sharing high clinical and histopathological similarities with human HS, the canine HS is conversely frequent in specific breeds and thus constitutes a unique spontaneous model for human HS to ...
Hedan, Benoit, Rault, Mélanie, Abadie, Jérôme, Ulvé, Ronan, Botherel, Nadine, Devauchelle, Patrick, Copie-Bergman, Christiane, Cadieu, Edouard, Parrens, Marie, Alten, Julia, Zalcman, Emmanuelle Lechapt, Cario, Gunnar, Damaj, Gandhi, Mokhtari, Karima, Le Loarer, Francois, Coulomb-Lhermine, Aurore, Derrien, Thomas, Hitte, Christophe, Bachelot, Laura, Breen, Matthew, Gilot, David, Blay, Jean Yves, Donadieu, Jean, André, Catherine   +23 more
openaire   +4 more sources

PTPN11 Is a Central Node in Intrinsic and Acquired Resistance to Targeted Cancer Drugs

Cell Reports, 2015
Most BRAF (V600E) mutant melanomas are sensitive to selective BRAF inhibitors, but BRAF mutant colon cancers are intrinsically resistant to these drugs because of feedback activation of EGFR.
Anirudh Prahallad, Guus J.J.E. Heynen, Giovanni Germano, Stefan M. Willems, Bastiaan Evers, Loredana Vecchione, Valentina Gambino, Cor Lieftink, Roderick L. Beijersbergen, Federica Di Nicolantonio, Alberto Bardelli, Rene Bernards   +11 more
doaj   +1 more source

Preliminary investigation of the diagnosis and gene function of deep learning PTPN11 gene mutation syndrome deafness

Frontiers in Genetics, 2023
Syndromic deafness caused by PTPN11 gene mutation has gradually come into the public’s view. In the past, many people did not understand its application mechanism and role and only focused on non-syndromic deafness, so the research on syndromic deafness ...
Xionghui Wu, Min Huang, Weiqing Huang, Sijun Zhao, Jiang Xie, Guangliang Liu, Shuting Chang   +6 more
doaj   +1 more source

A rare association of pathological variant of Alport’s syndrome caused by hemizygous 5’ splice mutation in intron 10 of COL4A5 gene with metachondromatosis due to heterozygous missense variation in protein tyrosine phosphatase nonreceptor type 11 gene

Saudi Journal of Kidney Diseases and Transplantation, 2019
Metachondromatosis is a rare disorder of autosomal inheritance with incomplete penetrance, which is characterized by formation of osteochondroma and enchondroma, caused by loss of function of the protein tyrosine phosphatase nonreceptor type 11 (PTPN11 ...
Suman Sethi, Sudhir Mehta, Vikas Makkar, Simran Kaur, P M Sohal   +4 more
doaj   +1 more source

Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations

BMC Medical Genetics, 2020
Background Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mutations in genes associated with the RAS / mitogen-activated protein kinase (MAPK) pathway.
Jeevana Praharsha Athota, Meenakshi Bhat, Sheela Nampoothiri, Kalpana Gowrishankar, Sanjeeva Ghanti Narayanachar, Vinuth Puttamallesh, Mohammed Oomer Farooque, Swathi Shetty   +7 more
doaj   +1 more source

SHP2 regulates chondrocyte terminal differentiation, growth plate architecture and skeletal cell fates. [PDF]

PLoS Genetics, 2014
Loss of PTPN11/SHP2 in mice or in human metachondromatosis (MC) patients causes benign cartilage tumors on the bone surface (exostoses) and within bones (enchondromas). To elucidate the mechanisms underlying cartilage tumor formation, we investigated the
Margot E Bowen, Ugur M Ayturk, Kyle C Kurek, Wentian Yang, Matthew L Warman   +4 more
doaj   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan Syndrome

Case Reports in Neurological Medicine, 2019
Noonan syndrome (NS) is an autosomal dominant disorder in some cases caused by PTPN11 mutations. Since somatic mutations in PTPN11 are seen in several tumor types, NS which causes germline PTPN11 mutations are also increase the risk of hematologic ...
Boonchai Boonyawat, Mongkon Charoenpitakchai, Piradee Suwanpakdee   +2 more
doaj   +1 more source