Ask about this productRelated genes to: SHP2 antibody
- Gene:
- PTPN11 NIH gene
- Name:
- protein tyrosine phosphatase non-receptor type 11
- Previous symbol:
- NS1
- Synonyms:
- BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2
- Chromosome:
- 12q24.13
- Locus Type:
- gene with protein product
- Date approved:
- 1993-03-03
- Date modifiied:
- 2019-04-23
Related products to: SHP2 antibody
Related articles to: SHP2 antibody
- Juvenile myelomonocytic leukemia (JMML) is a rare and very aggressive pediatric myelodysplastic/myeloproliferative neoplasm with molecular heterogeneity and constitutive activation of the RAS signaling pathway. The aim of this study was to identify the mutational landscape, driver genes, mutational signatures, functional pathways, and therapeutic targets of mutations that affect receptor tyrosine kinases (RTKs) and RAS pathways in JMML. - Source: PubMed
Publication date: 2026/09/18
Goel HarshMajhi Ravi KumarMeena Jagdish PrasadChopra AnitaBakhshi SameerSingh LataSeth RachnaKar BibekanandaTanwar PranayGupta Aditya Kumar - Noonan syndrome (NS) is a genetically heterogeneous RASopathy characterized by distinctive facial features, growth impairment, developmental delay, and congenital heart disease. Variants in the gene are strongly associated with hypertrophic cardiomyopathy (HCM). We report the case of a seven-year-old girl presenting with HCM, growth retardation, developmental delay, and characteristic dysmorphic features. Clinical suspicion of NS was raised during infancy. Initial investigations, including urinary glycosaminoglycan analysis and targeted molecular testing of the gene, were negative. Owing to persistent clinical suspicion, next-generation sequencing (NGS) was subsequently performed and identified a heterozygous pathogenic variant, c.770C>T (p.Ser257Leu), establishing the diagnosis of NS type 5. This case highlights the importance of expanded molecular testing, particularly NGS, in patients with suspected RASopathies and reinforces the association between the RAF1 p.Ser257Leu variant and HCM. - Source: PubMed
Publication date: 2026/08/24
Kheir SanaeAhmidi JihaneTajir MariamRkain MariaBabakhouya Abdeladim - Congenital heart disease (CHD) combined with anomalies of the kidney and urinary tract (CAKUT) belongs to severe clinical conditions that represent isolated cases or can be part of complex inherited syndromes. To date, knowledge of the genetic basis of cardio-renal birth defects is very limited. Using chromosomal microarray analysis and exome sequencing, we investigated the spectrum of copy number variations (CNVs) and point genetic variants in a pediatric cohort of 30 patients presenting with combined CHD and CAKUT. Two patients possessed a pathogenic deletion in the 22q11.2 genomic region, well-known as the DiGeorge/velocardiofacial syndrome locus. Four other patients harbored rare copy number gains, which included one of the dosage-sensitive genes: (5q14.1), (2q13), (5p12), and (15q26.2). In six children, novel or previously described causative variants were detected in the genes associated with orphan monogenic disorders such as Kabuki (, Noonan (), Adams-Oliver (), and Alagille () syndromes, as well as - and -related syndromes. Furthermore, potentially disease-contributing variants were identified in the genes that primarily code for cardiac transcription factors, chromatin remodeling proteins, Notch- or signaling molecules, and components of cilia. Notably, two children had loss-of-function variants in , encoding one of the receptors of the SLIT/ROBO signaling pathway. studies on cardiac mesenchymal cells demonstrated a dramatically diminished expression level of ROBO1 in a patient with novel compound heterozygous variants c.541_542del (p.Val181CysfsTer18) and c.657+4A>G and a moderately reduced ROBO1 expression in a patient with a heterozygous stop-gain variant c.2758C>T (p.Arg920Ter), which suggests a haploinsufficiency mechanism. Together, our findings underlined the utility of early cytogenetic screening for the 22q11.2 deletion among children with cardio-renal malformations and confirmed the importance of rare single-nucleotide variants in the genes involved in cardiogenesis and kidney development. In particular, can be regarded as a candidate gene associated with combined heart and kidney structural defects and should be included in appropriate diagnostic gene-sequencing panels. The results support the usefulness of WES and array-based comparative genomic hybridization (array-CGH) analysis for new candidate gene identification, more accurate diagnosis, and family genetic counseling. - Source: PubMed
Publication date: 2026/09/09
Zlotina AnnaZhuk SergeiKozyrev IvanSorokina MargaritaNikitina EkaterinaShagimardanova ElenaMelnik OlesiaVershinina TatianaPetrova NataliaKagantsov IlyaVasichkina ElenaPervunina TatianaKostareva Anna - Bone destruction constitutes the primary cause of disability in rheumatoid arthritis (RA). Herbal medicines feature unique multi-target advantages, rendering them promising therapeutic candidates for attenuating RA-associated bone damage. - Source: PubMed
Publication date: 2026/09/09
Zhang FuyuanYang YuchenMa XieliLi JunXia CongminWang JianJiang Quan - In myelodysplastic neoplasms, autoinflammatory syndromes result from dysregulated innate immunity and cause severe, organ-dominant inflammation. Interleukin-1 signaling through the NLRP3 inflammasome is implicated in the pathogenesis of myelodysplastic disease and related inflammatory complications, especially in the context of RAS-pathway activation. Reports describing therapy-related myelodysplastic syndrome with pulmonary autoinflammatory syndromes are rare, and the efficacy of interleukin-1 blockade in this setting has not been previously documented. A man in his 60s with therapy-related myelodysplastic syndrome (del 5q) following rectal chemoradiation developed a recurrent, lung-predominant autoinflammatory syndrome refractory to corticosteroids and Janus kinase inhibition. Next-generation sequencing identified gain-of-function mutations in NRAS, PTPN11, SF3B1, and ASXL1. On two separate occasions, anakinra produced rapid clinical improvement with normalization of inflammatory biomarkers and radiographic resolution; on both occasions, discontinuation of anakinra led to prompt relapse within days, with ferritin rising to above 5500 ng/mL and C-reactive protein exceeding 300 mg/L. This case demonstrates that interleukin-1-mediated inflammation can drive pulmonary complications in therapy-related myelodysplastic syndrome. Targeted cytokine blockade with anakinra produced reproducible and measurable clinical improvement when conventional therapies were insufficient. The recurrence of symptoms following anakinra withdrawal, and rapid improvement upon re-administration, underscores the functional link between interleukin-1-driven inflammation and clinical outcomes. The RAS/MAPK mutational context and the observed on-off response to anakinra further support an interleukin-1-driven mechanism that merits further investigation. - Source: PubMed
Publication date: 2026/09/20
Smith QuinnArar-Cauley Anna