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Related Concept Videos

Pleiotropy01:33

Pleiotropy

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Related Experiment Video

Updated: Jan 20, 2026

Sound Source Localization Testing in Single-sided Deafness Following Bone Conduction Intervention
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Sound Source Localization Testing in Single-sided Deafness Following Bone Conduction Intervention

Published on: December 20, 2024

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[PTPN11 and the deafness].

H Y Xu, Y Y Yuan, P Dai

    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery
    |August 26, 2019
    PubMed
    Summary
    This summary is machine-generated.

    The PTPN11 gene, encoding SHP-2 tyrosine phosphatase, is crucial for cell functions and linked to Noonan syndrome (NS) and NS with Multiple Lentigines (NSML). Mutations in this gene cause developmental disorders and increase cancer risk.

    Keywords:
    PTPN11 genecochlear implantationdeafnessmutation

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    Area of Science:

    • Genetics and Molecular Biology
    • Developmental Biology
    • Cell Signaling

    Background:

    • The PTPN11 gene encodes SHP-2 tyrosine phosphatase, a key regulator of cellular processes.
    • SHP-2 is involved in critical signaling pathways, including RAS-MAPK and JAK/STAT.
    • Dysregulation of SHP-2 function is implicated in various genetic disorders.

    Purpose of the Study:

    • To summarize the role of the PTPN11 gene and SHP-2 protein in cellular functions.
    • To outline the genetic basis and phenotypic characteristics of PTPN11-associated disorders.
    • To highlight the significance of PTPN11 in developmental processes and disease.

    Main Methods:

    • Literature review of PTPN11 gene function and associated diseases.
    • Analysis of PTPN11 gene expression patterns.
    • Correlation of PTPN11 mutations with clinical phenotypes.

    Main Results:

    • PTPN11 is expressed in most embryonic and adult tissues, regulating cell proliferation, differentiation, survival, and death.
    • SHP-2 acts downstream of RAS-MAPK and JAK/STAT signaling pathways.
    • PTPN11 mutations are causative for Noonan syndrome (NS) and Noonan syndrome with Multiple Lentigines (NSML).

    Conclusions:

    • The PTPN11 gene and its encoded SHP-2 protein are vital for normal development and cellular homeostasis.
    • Mutations in PTPN11 lead to a spectrum of developmental abnormalities seen in NS and NSML.
    • Understanding PTPN11's role is crucial for diagnosing and potentially treating these genetic syndromes and associated conditions.