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JOURNAL ARTICLE
R Pradeep, Sudeshna Rakshit, Geetha Shanmugam, Melvin George, Koustav Sarkar
BACKGROUND: T-ALL is an aggressive hematological tumor that develops as the result of a multi-step oncogenic process which causes expansion of hematopoietic progenitors that are primed for T cell development to undergo malignant transformation and growth. Even though first-line therapy has a significant response rate, 40% of adult patients and 20% of pediatric patients will relapse. Therefore, there is an unmet need for treatment for relapsed/refractory T-ALL to develop potential targeted therapies...
April 4, 2024: Clinical Immunology: the Official Journal of the Clinical Immunology Society
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JOURNAL ARTICLE
Tanja C Vallée, Jannik S Glasmacher, Hannes Buchner, Peter D Arkwright, Uta Behrends, Anastasia Bondarenko, Michael J Browning, David K Buchbinder, Alessandro Cattoni, Liudmyla Chernyshova, Peter Ciznar, Theresa Cole, Wojciech Czogala, Gregor Dueckers, John David M Edgar, Fatih Erbey, Anders Fasth, Francesca Ferrua, Renata Formankova, Eleonora Gambineri, Andrew R Gennery, Frederick D Goldman, Luis Ignacio Gonzalez-Granado, Carsten Heilmann, Tarja Heiskanen-Kosma, Hanna Juntti, Leena Kainulainen, Hirokazu Kanegane, Neslihan E Karaca, Sara Sebnem Kilic, Christoph Klein, Sylwia Koltan, Irina Kondratenko, Isabelle Meyts, Gulnara M Nasrullayeva, Lucia Dora Notarangelo, Srdjan Pasic, Isabelle Pellier, Claudio Pignata, Siraj Ahmed Misbah, Ansgar S Schulz, Gesmar Rs Segundo, Anna Shcherbina, Mary A Slatter, Robert Sokolic, Pere Soler-Palacin, Polina Stepensky, Joris M van Montfrans, Samppa Ryhänen, Beata Wolska-Kuśnierz, John B Ziegler, Xiaodong Zhao, Alessandro Aiuti, Hans D Ochs, Michael H Albert
WAS is a multifaceted monogenic disorder with a broad disease spectrum and variable disease severity and a variety of treatment options including allogeneic hematopoietic stem cell transplantation (HSCT) and gene therapy (GT). No reliable biomarker exists to predict disease course and outcome for individual patients. A total of 577 patients with a WAS variant from 26 countries and a median follow-up of 8.9 years (0.3-71.1), totaling 6118 patient-years, were included in this international retrospective study...
April 5, 2024: Blood
#3
JOURNAL ARTICLE
Hyung Sun Kim, Yun Sun Lee, Seung Myung Dong, Hyo Jung Kim, DA Eun Lee, Hyeon Woong Kang, Myeong Jin Kim, Joon Seong Park
Pancreatic ductal adenocarcinoma (PDAC) is one of the most aggressive solid malignancies. A specific mechanism of its metastasis has not been established. In this study, we investigated whether Neural Wiskott-Aldrich syndrome protein (N-WASP) plays a role in distant metastasis of PDAC. We found that N-WASP is markedly expressed in clinical patients with PDAC. Clinical analysis showed a notably more distant metastatic pattern in the N-WASP-high group compared to the N-WASP-low group. N-WASP was noted to be a novel mediator of epithelial-mesenchymal transition (EMT) via gene expression profile studies...
2024: Oncology Research
#4
JOURNAL ARTICLE
Camilla Cerutti, Serena Lucotti, Sofia T Menendez, Nicolas Reymond, Ritu Garg, Ignacio A Romero, Ruth Muschel, Anne J Ridley
Attachment of circulating tumor cells to the endothelial cells (ECs) lining blood vessels is a critical step in cancer metastatic colonization, which leads to metastatic outgrowth. Breast and prostate cancers are common malignancies in women and men, respectively. Here, we observe that β1-integrin is required for human prostate and breast cancer cell adhesion to ECs under shear-stress conditions in vitro and to lung blood vessel ECs in vivo. We identify IQGAP1 and neural Wiskott-Aldrich syndrome protein (NWASP) as regulators of β1-integrin transcription and protein expression in prostate and breast cancer cells...
March 26, 2024: Cell Reports
#5
JOURNAL ARTICLE
Suprit Basu, Rashmi Rikhi, Kanika Arora, Vibhu Joshi, Saniya Sharma, Amit Rawat, Surjit Singh, Deepti Suri
INTRODUCTION: Wiskott-Aldrich syndrome (WAS) is a rare X-linked inborn error of immunity characterized by microthrombocytopenia, infections, eczema, and increased predisposition to develop autoimmunity and malignancy. Flow cytometric assay for determining WAS protein (WASp) is a rapid and cost-effective tool for detecting patients. However, very few studies described WASp expression in female carriers. Most WAS carriers are clinically asymptomatic. Active screening of female family members helps identify female carriers, distinguish de novo mutations, and to select appropriate donor prior to curative stem cell transplantation...
March 24, 2024: Pediatric Blood & Cancer
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JOURNAL ARTICLE
Melissa Pille, John M Avila, So Hyun Park, Cuong Q Le, Haipeng Xue, Filomeen Haerynck, Lavanya Saxena, Ciaran Lee, Elizabeth J Shpall, Gang Bao, Bart Vandekerckhove, Brian R Davis
Wiskott-Aldrich syndrome (WAS) is a severe X-linked primary immunodeficiency resulting from a diversity of mutations distributed across all 12 exons of the WAS gene. WAS encodes a hematopoietic-specific and developmentally regulated cytoplasmic protein (WASp). The objective of this study was to develop a gene correction strategy potentially applicable to most WAS patients by employing nuclease-mediated, site-specific integration of a corrective WAS gene sequence into the endogenous WAS chromosomal locus. In this study, we demonstrate the ability to target the integration of WAS 2-12 -containing constructs into intron 1 of the endogenous WAS gene of primary CD34+ hematopoietic stem and progenitor cells (HSPCs), as well as WASp-deficient B cell lines and WASp-deficient primary T cells...
March 14, 2024: Molecular Therapy. Methods & Clinical Development
#7
Camryn Daidone, Sheyenne Carper
We present a case of a three-year-old African American male, born at term, who initially presented with bronchiolitis at six months and has since experienced recurrent episodes of respiratory distress and hospitalizations. The patient also has severe eczema, developmental delays, and recurrent viral illnesses. Despite thorough evaluations from various specialists, such as pulmonology, allergy, and gastroenterology, the underlying cause remained elusive. The differential diagnosis for this case is as follows: severe persistent asthma with a possible link to genetic mutations such as CDHR3, hyper-IgE syndrome, atypical presentation of Wiskott-Aldrich syndrome, and severe gastroesophageal reflux disease (GERD) with aspiration pneumonitis...
January 2024: Curēus
#8
JOURNAL ARTICLE
Lingyu Wang, Jie Zhang, Linna Lu, Juan Ren, Yaofang Zhang, Lidong Zhao, Wukang Shen, Xucheng Hu, Shuai Fang, Xiaomei Lu, Gang Wang, Linhua Yang
Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive genetic disease characterized by clinical symptoms such as eczema, thrombocytopenia with small platelets, immune deficiency, prone to autoimmune diseases, and malignant tumors. This disease is caused by mutations of the WAS gene encoding WASprotein (WASP). The locus and type of mutations of the WAS gene and the expression quantity of WASP were strongly correlated with the clinical manifestations of patients. We found a novel mutation in the WAS gene (c...
2024: International Journal of Genomics
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JOURNAL ARTICLE
Yuxin Sun, Xiaomin Song, Hua Pan, Xiaoxuan Li, Lirong Sun, Liang Song, Fei Ma, Junnan Hao
Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive primary immunodeficiency disorder. Mutations in the WAS gene are considered to be the primary cause of WAS. In this work, we report a boy who presented with intracranial hemorrhage (ICH) as an initial symptom and detects a novel pathogenic synonymous mutation in his WAS gene. His mother was a carrier of the mutant gene. The mutation, located at position c.273 (c.273 G>A) in exon 2, is a synonym mutation and predicted to affect protein expression by disrupting gene splicing...
February 2024: Intractable & Rare Diseases Research
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JOURNAL ARTICLE
Dmitri Sisario, Markus Spindler, Katharina J Ermer, Noah Grütz, Leo Nicolai, Florian Gaertner, Laura M Machesky, Markus Bender
Platelet function at vascular injury sites is tightly regulated through the actin cytoskeleton. The Wiskott-Aldrich syndrome protein-family verprolin-homologous protein (WAVE)-regulatory complex (WRC) activates lamellipodia formation via ARP2/3, initiated by GTP-bound RAC1 interacting with the WRC subunit CYFIP1. The protein FAM49b (Family of Unknown Function 49b), also known as CYRI-B (CYFIP-Related RAC Interactor B), has been found to interact with activated RAC1, leading to the negative regulation of the WRC in mammalian cells...
February 6, 2024: Cells
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JOURNAL ARTICLE
Lu Liu, Yali Wang, Weihua Cao, Lan Yang, Chi Zhang, Lanxin Yuan, Dan Wang, Wenjia Wang, Hongchang Zhang, John Schiefelbein, Fei Yu, Lijun An
The Arabidopsis (Arabidopsis thaliana) TRANSPARENT TESTA GLABRA2 (TTG2) gene encodes a WRKY transcription factor that regulates a range of development events like trichome, seed coat, and atrichoblast formation. Loss-of-function of TTG2 was previously shown to reduce or eliminate trichome specification and branching. Here, we report the identification of an allele of TTG2, ttg2-6. In contrast to the ttg2 mutants described before, ttg2-6 displayed unique trichome phenotypes. Some ttg2-6 mutant trichomes were hyper-branched, whereas others were hypo-branched, distorted, or clustered...
February 23, 2024: Plant Physiology
#12
JOURNAL ARTICLE
Larissa Vasconcelos-Fontes, Rhaissa C Vieira, Minghui He, Rafaella Ferreira-Reis, Arnon Dias Jurberg, Daniella Arêas Mendes-da-Cruz, John Andersson, Vinicius Cotta-de-Almeida, Lisa S Westerberg
The Wiskott-Aldrich syndrome protein (WASp) regulates actin cytoskeletal dynamics and function of hematopoietic cells. Mutations in the WAS gene lead to two different syndromes; Wiskott-Aldrich syndrome (WAS) caused by loss-of-function mutations, and X-linked neutropenia (XLN) caused by gain-of-function mutations. We previously showed that WASp-deficient mice have a decreased number of regulatory T (Treg) cells in the thymus and the periphery. We here evaluated the impact of WASp mutations on Treg cells in the thymus of WAS and XLN mouse models...
February 14, 2024: European Journal of Immunology
#13
JOURNAL ARTICLE
Xiaofei Bai, Harold E Smith, Luis O Romero, Briar Bell, Valeria Vásquez, Andy Golden
The mechanosensitive PIEZO channel family has been linked to over 26 disorders and diseases. Although progress has been made in understanding these channels at the structural and functional levels, the underlying mechanisms of PIEZO-associated diseases remain elusive. In this study, we engineered four PIEZO-based disease models using CRISPR/Cas9 gene editing. We performed an unbiased chemical mutagen-based genetic suppressor screen to identify putative suppressors of a conserved gain-of-function variant pezo-1[R2405P] that in human PIEZO2 causes distal arthrogryposis type 5 (DA5; p...
February 15, 2024: Development
#14
JOURNAL ARTICLE
Robert J Huber, William D Kim, Morgan L D M Wilson-Smillie
Ceroid lipofuscinosis neuronal 5 (CLN5) and cathepsin D (CTSD) are soluble lysosomal enzymes that also localize extracellularly. In humans, homozygous mutations in CLN5 and CTSD cause CLN5 disease and CLN10 disease, respectively, which are two subtypes of neuronal ceroid lipofuscinosis (commonly known as Batten disease). The mechanisms regulating the intracellular trafficking of CLN5 and CTSD and their release from cells are not well understood. Here, we used the social amoeba Dictyostelium discoideum as a model system to examine the pathways and cellular components that regulate the intracellular trafficking and release of the D...
January 2024: Traffic
#15
JOURNAL ARTICLE
Mai Thi Nguyen, Quoc Kiet Ly, Hyun-Jung Kim, Wan Lee
Skeletal myogenesis is an intricate process involving the differentiation of progenitor cells into myofibers, which is regulated by actin cytoskeletal dynamics and myogenic transcription factors. Although recent studies have demonstrated the pivotal roles of actin-binding proteins (ABPs) as mechanosensors and signal transducers, the biological significance of WAVE2 (Wiskott-Aldrich syndrome protein family member 2), an ABP essential for actin polymerization, in myogenic differentiation of progenitor cells has not been investigated...
December 20, 2023: Cells
#16
Ariharan Anantharachagan, Sook Yin Loh, Siobhan O Burns, Arian Laurence, Susan Tadros, Eleni Tholouli, Yadanar Lwin, Nicolas Martinez-Calle, P Vaitla, Emma C Morris
Regardless of their age, adult patients with Wiskott-Aldrich syndrome should be considered for hematopoietic stem cell transplantation if clinically indicated.
February 2024: J Allergy Clin Immunol Glob
#17
JOURNAL ARTICLE
Akihiko Wakatsuki, Yinzhi Lin, Shiori Kojima, Hiroshi Matsushita, Kosei Takeuchi, Kazuo Umezawa
Endometriosis, a common gynecological disorder characterized by the growth of endometrial gland and stroma outside the uterus, causes several symptoms such as dysmenorrhea, hypermenorrhea, and chronic abdominal pain. 17β estradiol (E2) stimulates the growth of endometriotic lesions. Although estetrol (E4), produced by human fetal liver, is also a natural estrogen, it may have the opposite effects on endometriotic cells. We investigated different effects of E4 and E2 on the invasion and migration of immortalized human endometrial stromal cells (HESCs) and evaluated whether E4 affects the expression of Wiskott-Aldrich syndrome protein (WASP) family member 1 (WASF-1)...
December 28, 2023: Endocrine Journal
#18
JOURNAL ARTICLE
Min Liu, Chunjian Wu, Rui Wang, Jiaming Qiu, Zhentao She, Jianan Qu, Jiang Xia
Signaling proteins often form biomolecular condensates through liquid-liquid phase separation (LLPS) during intracellular signal transduction. Modulating the LLPS property of intracellular protein condensates will redirect intracellular signals and provide a potential way to regulate cellular physiology. Phosphorylation of multiple tyrosine residues of the transmembrane receptor nephrin is known to drive the LLPS of the adaptor protein Nck and neuronal Wiskott-Aldrich Syndrome protein (N-WASP) and form the Nck signaling complex...
December 27, 2023: ACS Central Science
#19
JOURNAL ARTICLE
Nikhil Chandnani, Ayush Mandal, Ishika Gupta, Oishi Mukherjee, Sudeshna Rakshit, Geetha Shanmugam, Melvin George, Koustav Sarkar
Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of all lung cancer which is the deadliest type of cancer for both men and women. Previous studies already showed that cell-intrinsic loss of WASp causes B cell tolerance and WASp deficiency in T helper (TH ) cells is linked to negative effects on cytokine gene transcription necessary for TH 1 differentiation. In the current study, we investigated the molecular mechanisms involved in WASp-mediated epigenetic regulation of B cell differentiation during NSCLC...
December 25, 2023: Medical Oncology
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REVIEW
Pradeep R, Geetha Shanmugam, Sudeshna Rakshit, Koustav Sarkar
As patients continue to suffer from lymphoproliferative and myeloproliferative diseases known as haematopoietic malignancies can affect the bone marrow, blood, lymph nodes, and lymphatic and non-lymphatic organs. Despite advances in the current treatment, there is still a significant challenge for physicians to improve the therapy of HMs. WASp is an important regulator of actin polymerization and the involvement of WASp in transcription is thought to be linked to the DNA damage response and repair. In some studies, severe immunodeficiency and lymphoid malignancy are caused by WASp mutations or the absence of WASp and these mutations in WAS can alter the function and/or expression of the intracellular protein...
January 2024: Pathology, Research and Practice
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