Results 11 to 20 of about 264 (130)

A Novel PTPN11 mutation in LEOPARD syndrome [PDF]

Human Mutation, 2003
PTPN11 gene mutations are common to both patients with Noonan (NS) and LEOPARD syndrome (LS). So far only two recurrent mutations have been identified in LS patients by different research groups, i.e., Tyr279Cys and Thr468Met. In this work we describe the third PTPN11 mutation that has been found in a single LS patient.
E, Conti, T, Dottorini, A, Sarkozy, G E, Tiller, G, Esposito, A, Pizzuti, B, Dallapiccola   +6 more
openaire   +2 more sources

Malignant progression of liver cancer progenitors requires lysine acetyltransferase 7–acetylated and cytoplasm‐translocated G protein GαS

Hepatology, EarlyView., 2022
KAT7‐acetylated and cytoplasm‐translocated G‐protein GαS enhances IL‐6 effect and drives HCC progenitor cell progression. Abstract Background and Aims Hepatocarcinogenesis goes through HCC progenitor cells (HcPCs) to fully established HCC, and the mechanisms driving the development of HcPCs are still largely unknown.
Ye Zhou, Kaiwei Jia, Suyuan Wang, Zhenyang Li, Yunhui Li, Shan Lu, Yingyun Yang, Liyuan Zhang, Mu Wang, Yue Dong, Luxin Zhang, Wannian Zhang, Nan Li, Yizhi Yu, Xuetao Cao, Jin Hou   +15 more
wiley   +1 more source

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. [PDF]

PLoS Genetics, 2011
Metachondromatosis (MC) is a rare, autosomal dominant, incompletely penetrant combined exostosis and enchondromatosis tumor syndrome. MC is clinically distinct from other multiple exostosis or multiple enchondromatosis syndromes and is unlinked to EXT1 ...
Margot E Bowen, Eric D Boyden, Ingrid A Holm, Belinda Campos-Xavier, Luisa Bonafé, Andrea Superti-Furga, Shiro Ikegawa, Valerie Cormier-Daire, Judith V Bovée, Twinkal C Pansuriya, Sérgio B de Sousa, Ravi Savarirayan, Elena Andreucci, Miikka Vikkula, Livia Garavelli, Caroline Pottinger, Toshihiko Ogino, Akinori Sakai, Bianca M Regazzoni, Wim Wuyts, Luca Sangiorgi, Elena Pedrini, Mei Zhu, Harry P Kozakewich, James R Kasser, Jon G Seidman, Kyle C Kurek, Matthew L Warman   +27 more
doaj   +1 more source

Modeling (not so) rare developmental disorders associated with mutations in the protein-tyrosine phosphatase SHP2

Frontiers in Cell and Developmental Biology, 2022
Src homology region 2 (SH2)-containing protein tyrosine phosphatase 2 (SHP2) is a highly conserved protein tyrosine phosphatase (PTP), which is encoded by PTPN11 and is indispensable during embryonic development.
Maja Solman, Daniëlle T. J. Woutersen, Jeroen den Hertog, Jeroen den Hertog   +3 more
doaj   +1 more source

PTPN11 mutations in LEOPARD syndrome [PDF]

Journal of Medical Genetics, 2002
LEOPARD syndrome is an autosomal dominant disorder with multiple lentigines, congenital cardiac abnormalities, ocular hypertelorism, and retardation of growth. Deafness and genital abnormalities are less frequently found. We report a father and daughter and a third, unrelated patient with LEOPARD syndrome.
E, Legius, C, Schrander-Stumpel, E, Schollen, C, Pulles-Heintzberger, M, Gewillig, J-P, Fryns   +5 more
openaire   +2 more sources

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

JAAD Case Reports, 2021
LEOPARD syndrome (LS) is an autosomal dominant inherited or sporadic disease associated with high penetrance and phenotypic variablity.1 It is caused by mutations in the protein tyrosine phosphatase nonreceptor 11 (PTPN11), B-RAF, and RAF1 genes.2 The acronym LEOPARD refers to the main manifestations of the syndrome, namely, Lentigines ...
Nader Rahal, MD, Amir Sadi, MD, Eran Cohen-Barak, MD, Michael Ziv, MD, Judit Krausz, MD, Roni P. Dodiuk-Gad, MD   +5 more
openaire   +3 more sources

Outcomes in growth hormone-treated Noonan syndrome children: impact of PTPN11 mutation status

Endocrine Connections, 2022
Introduction: Mutations in PTPN11 are associated with Noonan syndrome (NS). Although the effectiveness of growth hormone therapy (GHT) in treating sh ort stature due to NS has been previously demonstrated, the effect of PTPN11 mutation status on the long-
Alexander A L Jorge, Thomas Edouard, Mohamad Maghnie, Alberto Pietropoli, Nicky Kelepouris, Alicia Romano, Martin Zenker, Reiko Horikawa   +7 more
doaj   +1 more source

Thoracic low grade glial neoplasm with concurrent H3 K27M and PTPN11 mutations

Acta Neuropathologica Communications, 2022
We present the case of a 41-year-old man who developed worsening mid-thoracic back pain and imaging revealed a well-circumscribed intramedullary tumor in the thoracic spinal cord.
Michael G. Argenziano, Julia L. Furnari, Michael L. Miller, Yu Sun, Matei A. Banu, Justin A. Neira, Matija Snuderl, Jeffrey N. Bruce, Mary Welch, Paul McCormick, Peter Canoll   +10 more
doaj   +1 more source

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

Genomic profiling of primary histiocytic sarcoma reveals two molecular subgroups

Haematologica, 2020
Histiocytic sarcoma is a rare malignant neoplasm that may occur de novo or in the context of a previous hematologic malignancy or mediastinal germ cell tumor.
Caoimhe Egan, Alina Nicolae, Justin Lack, Hye-Jung Chung, Shannon Skarshaug, Thu Anh Pham, Winnifred Navarro, Zied Abdullaev, Nadine S. Aguilera, Liqiang Xi, Svetlana Pack, Stefania Pittaluga, Elaine S. Jaffe, Mark Raffeld   +13 more
doaj   +1 more source