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    PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 [ Homo sapiens (human) ]

    Gene ID: 9051, updated on 10-Oct-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype.

    Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype.
    Özkılınç Önen M, Onat UI, Uğurlu S, Timuçin AC, Öz Arslan D, Everest E, Özdoğan H, Tahir Turanlı E.

    09/18/2023
    PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory (PAMI) Syndrome: A Systematic Review.

    PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory (PAMI) Syndrome: A Systematic Review.
    Mejbri M, Renella R, Candotti F, Jaques C, Holzinger D, Hofer M, Theodoropoulou K., Free PMC Article

    08/30/2023
    Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa.

    Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa.
    Morales-Heil DJ, Cao L, Sweeney C, Malara A, Brown F, Milam P, Anadkat M, Kaffenberger J, Kaffenberger B, Nagele P, Kirby B, Roberson EDO., Free PMC Article

    06/15/2023
    Strong inflammatory signatures in the neutrophils of PAMI syndrome.

    Strong inflammatory signatures in the neutrophils of PAMI syndrome.
    Zheng W, Fan X, Yang Z, Shangguan Y, Jin T, Liu Y, Huang J, Ye X, Zhou Q, Li X., Free PMC Article

    10/15/2022
    Clinical and genetic characteristics of PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome.

    Clinical and genetic characteristics of PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome.
    Zhang D, Su G, Liu Y, Lai J., Free PMC Article

    03/19/2022
    Excess Serum Interleukin-18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1.

    Excess Serum Interleukin-18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1.
    Stone DL, Ombrello A, Arostegui JI, Schneider C, Dang V, de Jesus A, Girard-Guyonvarc'h C, Gabay C, Lee W, Chae JJ, Aksentijevich I, Goldbach-Mansky RT, Kastner DL, Canna SW., Free PMC Article

    02/19/2022
    A reciprocal feedback loop between HIF-1alpha and HPIP controls phenotypic plasticity in breast cancer cells.

    A reciprocal feedback loop between HIF-1α and HPIP controls phenotypic plasticity in breast cancer cells.
    Khumukcham SS, Penugurti V, Soni A, Uppala V, Hari K, Jolly MK, Dwivedi A, Salam Pk A, Padala C, Mukta S, Bhopal T, Manavathi B.

    02/5/2022
    PAMI syndrome: A rare cause that can be easily misdiagnosed.

    PAMI syndrome: A rare cause that can be easily misdiagnosed.
    Xu XM, Huang H, Ding F, Yang Z, Wang J, Jin YL.

    01/22/2022
    Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases.

    Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases.
    Boursier G, Piram M, Rittore C, Sarrabay G, Touitou I.

    01/15/2022
    HPIP protooncogene differentially regulates metabolic adaptation and cell fate in breast cancer cells under glucose stress via AMPK and RNF2 dependent pathways.

    HPIP protooncogene differentially regulates metabolic adaptation and cell fate in breast cancer cells under glucose stress via AMPK and RNF2 dependent pathways.
    Penugurti V, Khumukcham SS, Padala C, Dwivedi A, Kamireddy KR, Mukta S, Bhopal T, Manavathi B.

    01/8/2022
    HSCT is effective in patients with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome.

    HSCT is effective in patients with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome.
    Laberko A, Burlakov V, Maier S, Abinun M, Skinner R, Kozlova A, Suri D, Lehmberg K, Müller I, Balashov D, Novichkova G, Holzinger D, Gennery AR, Shcherbina A.

    10/16/2021
    Genetic variations in gamma-secretase and PSTPIP1 in hidradenitis suppurativa in Singaporean Chinese.

    Genetic variations in gamma-secretase and PSTPIP1 in hidradenitis suppurativa in Singaporean Chinese.
    Shen M, Yeoh XLA, Wang DY, Tey HL, Ren EC, Oon HH.

    07/17/2021
    Rare cases of PAMI syndrome in both father and son with the same missense mutation in PSTPIP1 gene and literature review.

    Rare cases of PAMI syndrome in both father and son with the same missense mutation in PSTPIP1 gene and literature review.
    Huang X, Xu M, Dai S, Wang M, Zheng H, Zeng K, Li L.

    07/17/2021
    Overexpression of HPIP is associated with endometrial cancer.

    Overexpression of HPIP as a biomarker for metastasis and prognosis prediction in endometrial cancer patients.
    Cheng L, Zhao T, Li S, Wang Y, Fei H, Meng F., Free PMC Article

    03/14/2020
    Here we show a role for PSTPIP1 that revealed itself in patients with CVID by contribution to T-cell deficiency through altered F-actin polymerization

    Proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) controls immune synapse stability in human T cells.
    Janssen WJM, Grobarova V, Leleux J, Jongeneel L, van Gijn M, van Montfrans JM, Boes M.

    09/14/2019
    We identified HPIP protein expression as a novel independent poor prognostic indicator in cervical cancer

    Expression and clinicopathological significance of hematopoietic pre-B cell leukemia transcription factor-interacting protein in cervical carcinoma.
    Wang Y, Li D, Liu Y, Tian S, Chen X.

    11/17/2018
    Case Report: classical pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome with E250K mutation of PSTPIP1.

    Haematological involvement associated with a mild autoinflammatory phenotype, in two patients carrying the E250K mutation of PSTPIP1.
    Belelli E, Passarelli C, Pardeo M, Holzinger D, De Benedetti F, Insalaco A.

    02/17/2018
    HPIP expression is associated with high-grade ovarian tumors.

    HPIP promotes epithelial-mesenchymal transition and cisplatin resistance in ovarian cancer cells through PI3K/AKT pathway activation.
    Bugide S, Gonugunta VK, Penugurti V, Malisetty VL, Vadlamudi RK, Manavathi B.

    04/1/2017
    we demonstrated that HPIP silencing suppressed TGF-beta1-induced EMT in lung cancer cells by inhibiting Smad2 activation.

    HPIP silencing inhibits TGF-β1-induced EMT in lung cancer cells.
    Shi S, Zhao J, Wang J, Mi D, Ma Z.

    03/18/2017
    our study demonstrated that knockdown of HPIP significantly inhibits the proliferation and migration/invasion of HNSCC cells by suppressing the PI3K/Akt signaling pathway.

    Knockdown of HPIP Inhibits the Proliferation and Invasion of Head-and-Neck Squamous Cell Carcinoma Cells by Regulating PI3K/Akt Signaling Pathway.
    Chen Y, Zhao R, Zhao Q, Shao Y, Zhang S., Free PMC Article

    03/18/2017
    these structural variations in CD2BP1 gene due to the mutations could be one of the strongest reasons to demonstrate the involvement of these gene variations in the patients with rheumatoid arthritis.

    Identification of novel mutations in CD2BP1 gene in clinically proven rheumatoid arthritis patients of south India.
    Kumar BS, Kumar PS, Sowgandhi N, Prajwal BM, Mohan A, Sarma KV, Sarma PV.

    02/18/2017
    PSTPIP1 was found to interact with pyrin at the leading edge during cell migration.

    Pyrin-PSTPIP1 colocalises at the leading edge during cell migration.
    Akkaya-Ulum YZ, Balci-Peynircioglu B, Purali N, Yilmaz E.

    10/22/2016
    genetic polymorphism is associated with hyperzincemia and hypercalprotectinemia

    Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.
    Holzinger D, Fassl SK, de Jager W, Lohse P, Röhrig UF, Gattorno M, Omenetti A, Chiesa S, Schena F, Austermann J, Vogl T, Kuhns DB, Holland SM, Rodríguez-Gallego C, López-Almaraz R, Arostegui JI, Colino E, Roldan R, Fessatou S, Isidor B, Poignant S, Ito K, Epple HJ, Bernstein JA, Jeng M, Frankovich J, Lionetti G, Church JA, Ong PY, LaPlant M, Abinun M, Skinner R, Bigley V, Sachs UJ, Hinze C, Hoppenreijs E, Ehrchen J, Foell D, Chae JJ, Ombrello A, Aksentijevich I, Sunderkoetter C, Roth J., Free PMC Article

    03/5/2016
    Molecular interactions between HPIP and FAK, and HPIP and calpain2 regulate cell adhesion and migration through modulation of focal adhesion dynamics.

    Hematopoietic PBX-interacting protein (HPIP) is over expressed in breast infiltrative ductal carcinoma and regulates cell adhesion and migration through modulation of focal adhesion dynamics.
    Bugide S, David D, Nair A, Kannan N, Samanthapudi VS, Prabhakar J, Manavathi B.

    11/28/2015
    Case Report: missense mutation in PSTPIP1, the gene responsible for PAPA syndrome.

    A novel de novo PSTPIP1 mutation in a boy with pyogenic arthritis, pyoderma gangrenosum, acne (PAPA) syndrome.
    Fathalla BM, Al-Wahadneh AM, Al-Mutawa M, Kambouris M, El-Shanti H.

    03/21/2015
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