Results 81 to 90 of about 14,972 (184)

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.

PLoS Genetics, 2010
Although more than 2,400 genes have been shown to contain variants that cause Mendelian disease, there are still several thousand such diseases yet to be molecularly defined.
Nara L M Sobreira, Elizabeth T Cirulli, Dimitrios Avramopoulos, Elizabeth Wohler, Gretchen L Oswald, Eric L Stevens, Dongliang Ge, Kevin V Shianna, Jason P Smith, Jessica M Maia, Curtis E Gumbs, Jonathan Pevsner, George Thomas, David Valle, Julie E Hoover-Fong, David B Goldstein   +15 more
doaj   +1 more source

Cancer multi-omics-based differential expression analysis and prognostic potential of identified hub targets of myco-metabolites for breast carcinoma and lung carcinoma

Future Journal of Pharmaceutical Sciences
Background Breast carcinoma (BC) and lung carcinoma (LC) have the highest incidence and mortality rates worldwide. In prior work, studied sample hub targets contributing to anticancer potential against BC and LC were identified through network ...
Singh Shreya, Debadatta Mohapatra, Gaurav Gopal Naik, Pooja Kathait, Soki Malang, Pradeep Patel, Shambhavi, Gulzar Alam, Alakh N. Sahu   +8 more
doaj   +1 more source

When RASopathies Collide: A Case Highlighting the Continuum between Noonan and LEOPARD Syndromes

International Journal of Medical Students
LEOPARD syndrome and Noonan syndrome are clinically overlapping RASopathies, both frequently associated with pathogenic variants in the PTPN11 gene, which encodes the SHP-2 tyrosine phosphatase.
Umesh G, Sofia Mondal, Shaun Nevil, S Anton Charles, Mansi Kumarswamy   +4 more
doaj   +1 more source

Variants of the PTPN11 Gene in Mexican Patients with Noonan Syndrome

Genes
Background/Objectives: Noonan syndrome (NS) is a genetic multisystem disease characterized by distinctive facial features, short stature, chest deformity, and congenital heart defects. NS is caused by gene variants of the RAS/MAPK pathway, with PTPN11 accounting for about 50% of cases.
Paola Montserrat Zepeda-Olmos, Eduardo Esparza-García, Kiabeth Robles-Espinoza, Juan Ramón González-García, Perla Graciela Rodríguez Gutiérrez, María Teresa Magaña-Torres   +5 more
openaire   +2 more sources

Activating PTPN11 Mutation [PDF]

, 2020
openaire   +1 more source

PTPN11 Gene Mutation [PDF]

, 2020
openaire   +1 more source

Grb2-associated binder 1 polymorphism was associated with the risk of Helicobactor pylori infection and gastric atrophy

International Journal of Medical Sciences, 2007
Background: Various single nucleotide polymorphisms (SNPs) have explained the association between Helicobacter pylori (H. pylori) and gastric atrophy and cancer. This study investigated the associations of Grb2 associated binder 1 (Gab1) polymorphism and
Yasuyuki Goto, Takafumi Ando, Kazuko Nishio, Sayo Kawai, Yoshiko Ishida, Mariko Naito, Hidemi Goto, Nobuyuki Hamajima
doaj  

PTPN11 wt Allele [PDF]

, 2020
openaire   +1 more source

Molecular Diagnosis and Phenotypic Variability of Noonan Syndrome: Experience from a Romanian Multicenter Study. [PDF]

Diagnostics (Basel)
Nazarie FV, Dobrescu MA, Lazea C, David AA, Șufană C, Bucerzan S, Cainap SS, Rancea R, Stănoiu-Pînzariu O, Pascanu IM, Popp RA, Pop LA, Lazăr C, Alkhzouz C, Miclea D, Vulturar R.   +15 more
europepmc   +1 more source

Oncogenic PTPN11 Mutations are Rare in Solid Tumors

Pathology & Oncology Research, 2014
Eun Mi, Je, Youn Jin, Choi, Nam Jin, Yoo, Sug Hyung, Lee   +3 more
openaire   +2 more sources