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Showing 1-15 of 15 results
  1. High levels of CRBN isoform lacking IMiDs binding domain predicts for a worse response to IMiDs-based upfront therapy in newly diagnosed myeloma patients

    In recent years, the immunoderivative (IMiD) agents have been extensively used for the treatment of multiple myeloma (MM). IMiDs and their newer...

    Enrica Borsi, Gaia Mazzocchetti, ... Carolina Terragna in Clinical and Experimental Medicine
    Article Open access 10 October 2023
  2. CLK1/SRSF5 pathway induces aberrant exon skip** of METTL14 and Cyclin L2 and promotes growth and metastasis of pancreatic cancer

    Background

    Both aberrant alternative splicing and m6A methylation play complicated roles in the development of pancreatic cancer (PC), while the...

    Shi Chen, Can Yang, ... Yao-Dong Wang in Journal of Hematology & Oncology
    Article Open access 13 April 2021
  3. Circular RNA circCCNT2 is upregulated in the anterior cingulate cortex of individuals with bipolar disorder

    Gene expression dysregulation in the brain has been associated with bipolar disorder, but little is known about the role of non-coding RNAs. Circular...

    Rixing Lin, Juan Pablo Lopez, ... Gustavo Turecki in Translational Psychiatry
    Article Open access 10 December 2021
  4. Identification and functional characterization of a hemizygous novel intronic variant in OCRL gene causes Lowe syndrome

    Background

    Lowe syndrome is an X-linked multisystem disorder affecting eyes, nervous system, and kidney. The main causes are mutations in the OCRL ...

    Junhui Sun, Zhongwei Zhou, ... Ming Qi in Clinical and Experimental Nephrology
    Article 11 May 2020
  5. TCF7L2 acts as a molecular switch in midbrain to control mammal vocalization through its DNA binding domain but not transcription activation domain

    Vocalization is an essential medium for social signaling in birds and mammals. Periaqueductal gray (PAG) a conserved midbrain structure is believed...

    Huihui Qi, Li Luo, ... Yichang Jia in Molecular Psychiatry
    Article Open access 13 February 2023
  6. Genetic analysis of the PKHD1 gene with long-rang PCR sequencing

    PKHD1 gene mutations are found responsible for autosomal recessive polycystic kidney disease (ARPKD). However, it is inconvenient to detect the...

    Article 18 October 2016
  7. Abnormal Indices of Cell Cycle Activity in Schizophrenia and their Potential Association with Oligodendrocytes

    The goal of this study was to determine what signaling pathways may elicit myelin-specific gene expression deficits in schizophrenia (SZ). Microarray...

    Pavel Katsel, Kenneth L Davis, ... Vahram Haroutunian in Neuropsychopharmacology
    Article 05 March 2008
  8. MAPT S305I mutation: implications for argyrophilic grain disease

    Frontotemporal lobar degeneration (FTLD) with mutations in the tau gene (MAPT) causes familial frontotemporal dementia with tau pathology. Many of...

    Gabor G. Kovacs, Alan Pittman, ... Rohan de Silva in Acta Neuropathologica
    Article 08 December 2007
  9. Complex MLL rearrangements in t(4;11) leukemia patients with absent AF4 · MLL fusion allele

    The human mixed lineage leukemia ( MLL) gene is frequently involved in genetic rearrangements with more than 55 different translocation partner genes,...

    E Kowarz, T Burmeister, ... R Marschalek in Leukemia
    Article 05 April 2007
  10. Untangling the human estrogen receptor gene structure

    Awareness of estrogen's neuroprotective and behavioral effects is broadening rapidly and has served as an incentive to investigate estrogen...

    P. Sand, C. Luckhaus, ... J. Deckert in Journal of Neural Transmission
    Article 01 May 2002
  11. Tau isoform profile and phosphorylation state in dementia pugilistica recapitulate Alzheimer's disease

    Insights into mechanisms of familial Alzheimer's disease (AD) caused by genetic mutations have emerged rapidly compared to sporadic AD. Indeed,...

    M. Schmidt, V. Zhukareva, ... J. Trojanowski in Acta Neuropathologica
    Article 01 May 2001
  12. Distinct methylation patterns of two APC gene promoters in normal and cancerous gastric epithelia

    The adenomatous polyposis coli ( APC ) tumor suppressor gene is mutationally inactivated in both familial and sporadic forms of colorectal cancers. In...

    Takashi Tsuchiya, Gen Tamura, ... Stephen J Meltzer in Oncogene
    Article 28 July 2000
  13. Screening for MLL tandem duplication in 387 unselected patients with AML identify a prognostically unfavorable subset of AML

    Partial tandem duplications of the MLL gene have been associated with trisomy 11 in acute myeloid leukemia (AML) and recently, have also been...

    S Schnittger, U Kinkelin, ... F Griesinger in Leukemia
    Article 28 April 2000
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