Ask about this productRelated genes to: PTPN11 Blocking Peptide
- 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: PTPN11 Blocking Peptide
Related articles to: PTPN11 Blocking Peptide
- 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 - Triple-negative breast cancer (TNBC) is an aggressive subtype with high chemoresistance and poor survival rates. While mitochondrial dynamics, fission and fusion, are implicated in chemoresistance, their precise roles remain largely unexplored. This study investigates how cytoplasmic phosphatases SHP-1 and SHP-2 regulate chemotherapeutic response in TNBC cells with altered mitochondrial dynamics. - Source: PubMed
Publication date: 2026/08/25
Croom Elizabeth KWalton Lillian EBono Alessandro JZhang AnneHumphries Brock A - Cryptorchidism is the most prevalent pediatric genital anomaly, yet its clinical significance often extends beyond simple anatomical maldescent. While surgical management is well-established, the necessity for holistic endocrine and genetic evaluation remains underexplored. We aimed to characterize the clinical, hormonal, and genetic landscapes of patients referred for pediatric endocrinological assessment following orchiopexy. - Source: PubMed
Publication date: 2026/08/26
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