Porcine SHP-2 ELISA kit
- Known as:
- Porcine SHP-2 Enzyme-linked immunosorbent assay test reagent
- Catalog number:
- e07s0105
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Blue gene shanghai
- Gene target:
- Porcine SHP-2 ELISA kit
Related genes to: Porcine SHP-2 ELISA kit
- 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
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- Noonan syndrome (NS) and LEOPARD syndrome (LS) are well-characterized RAS/MAPK pathway-related disorders with strong genotype-phenotype correlations. Most cases of both syndromes are caused by variants in the PTPN11 gene, with specific sites predisposing to either NS or LS. The association between PTPN11 and granular cell tumours (GCTs) remains largely unexplored. To further investigate the phenotypic spectrum of patients with PTPN11 variants. We performed whole-exome sequencing on four Chinese children who presented with café-au-lait macules as the initial cutaneous manifestation. To confirm the mutation, Sanger sequencing was performed on DNA samples obtained from the patient and both parents. Histopathological examination and immunohistochemical staining were performed on a subcutaneous nodule from patient 1 to characterize the lesion. Three PTPN11 variants were identified: c.1391G>C (p. Gly464Ala), c.1403C>T (p. Thr468Met), and c.1493G>T (p. Arg498Leu). Notably, patient 1, who carried the PTPN11 c.1391G>C variant, presented with coexisting granular cell tumours -an association that has not previously been reported for this specific variant. The association with granular cell tumours highlights the clinical importance of long-term surveillance of neural crest-derived neoplasms in PTPN11 variant carriers and broadens our understanding of the diverse phenotypic outcomes associated with PTPN11 variants. - Source: PubMed
Publication date: 2026/08/31
Zhao PiaopingZeng QinCao QiaoyuLei RuiHuang HaishengYan QinTian FengLi Ming - Neuroradiological findings in Noonan syndrome (NS) remain insufficiently characterized. - Source: PubMed
Publication date: 2026/08/27
Patti GiuseppaMaiorano Nadia GabriellaPiccoli FrancescaZucconi AliceCalevo Maria GraziaTamburrino FedericaScarano EmanuelaSchiavariello ConcettaRossi CesareMazzanti LauraOrlandini EleonoraPozzobon GabriellaFinamore MartinaBaldoli CristinaGrandone AnnaCirillo MarioAiello FrancescaCorica DomenicoWasniewska MalgorzataCattoni AlessandroRemida PaoloCapalbo DonatellaTortora FabioSalerno Maria CarolinaAzzolini SaraMansour MariamFaienza Maria FeliciaPalladino StefanoTortora DomenicoRosti GiuliaFaravelli FrancescaVenturino CristinaCapuozzo PasqualeDe Mori LetiziaMaietta PaolaAllegri Anna Elsa MariaMorreale ChiaraAngelelli AlessiaNapoli FlaviaDi Iorgi NatasciaRossi AndreaMaghnie MohamadSeverino Mariasavina - Microphthalmia, anophthalmia and ocular coloboma (MAC) are rare developmental eye disorders. Although over 100 causative genes have been identified, the molecular spectrum and genotype-phenotype correlations remain incompletely understood, particularly in genetically diverse populations. We set out to molecularly characterize MAC in the Israeli population. Forty-seven MAC-affected individuals from 43 unrelated families were enrolled. DNA of all probands was subjected to whole exome sequencing. The most common phenotype was microphthalmia (64% of patients). Definite or possible molecular diagnoses were achieved in 13/43 probands (30%) and involved 10 different genes (, , , , , , , , , and ). An in vitro splicing assay was used to explore the pathogenicity of a variant in the gene. Following stringent filtering of exome data, 226 rare possibly pathogenic variants were identified in 218 genes not previously associated with MAC. The rate of molecular diagnosis achieved in this Israeli MAC cohort is similar to the reported range in other studies. The results further demonstrate the genetic heterogeneity of MAC, while supporting the involvement of complex inheritance and/or environmental factors in many of the cases. Further studies are required to reveal these underlying etiological factors, and to support the novel genotype-phenotype associations suggested here. - Source: PubMed
Publication date: 2026/08/21
Rabinovich YakovVardizer YoavPincovich ShirleyWolowelsky MarvaKulyamzin SofiaEhrenberg MiriamZayit-Soudry ShiriMan Peles InbalLeibu RinaGoldenberg-Cohen NitzaBen-Yosef Tamar - Neonatal encephalopathy (NE) is a major cause of neonatal mortality and long-term neurological disability. Although hypoxic-ischaemic encephalopathy (HIE) is the most common cause, several genetic disorders may mimic or coexist with hypoxic-ischaemic injury. Next-generation sequencing has emerged as a promising diagnostic tool in this setting. This systematic review evaluated the current evidence on genomic sequencing in NE. - Source: PubMed
Publication date: 2026/07/24
Colacurci DarioSarno LauraFiore EmmanuelRaimondi FrancescoMartinelli NinaSirico AngeloDi Carlo CostantinoBifulco GiuseppeGuida MaurizioMaruotti Giuseppe Maria - Acute myeloid leukemia (AML) is a molecularly heterogeneous malignancy where next-generation sequencing (NGS) has revolutionized risk stratification and treatment paradigms. However, the interplay between mutation cooperativity, clinical phenotypes, and biochemical markers of organ dysfunction remains poorly characterized. This study investigates how co-mutational patterns influence hematological/biochemical parameters and survival outcomes in AML. - Source: PubMed
Publication date: 2026/08/12
Xu ZhengrongZheng YingZheng YiYao YanyanGeng HailiLi XiaofanWang Shao-YuanPan Lili