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Haploinsufficiency

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https://www.readbyqxmd.com/read/28534997/reduced-expression-of-follicle-stimulating-hormone-receptor-mrna-and-protein-in-pregnancies-complicated-by-pre%C3%A2-eclampsia
#1
Mo Li, Yifan Jia, Yan Ling, Yilu Chen, Lu Zhang, Dan Luo, Lidan Lai, Meijun Guo, Dalei Zhang, Min Ren, Hong Xu, Haibin Kuang
Expression and function of the follicle‑stimulating hormone receptor (FSHR) are traditionally thought to be limited to the ovary in females. However, recent studies have indicated that the FSHR is also expressed in endothelial cells of the placental vasculature, and that the haploinsufficiency of the feto‑placental FSHR impaired the growth of the mouse placenta. The aim of the current study was to investigate the placental expression of FSH and FSHR in pregnancies complicated by pre‑eclampsia. Placental tissue samples were collected from 20 pregnancies with pre‑eclampsia and 25 normal pregnancies...
May 18, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28530713/bach2-immunodeficiency-illustrates-an-association-between-super-enhancers-and-haploinsufficiency
#2
Behdad Afzali, Juha Grönholm, Jana Vandrovcova, Charlotte O'Brien, Hong-Wei Sun, Ine Vanderleyden, Fred P Davis, Ahmad Khoder, Yu Zhang, Ahmed N Hegazy, Alejandro V Villarino, Ira W Palmer, Joshua Kaufman, Norman R Watts, Majid Kazemian, Olena Kamenyeva, Julia Keith, Anwar Sayed, Dalia Kasperaviciute, Michael Mueller, Jason D Hughes, Ivan J Fuss, Mohammed F Sadiyah, Kim Montgomery-Recht, Joshua McElwee, Nicholas P Restifo, Warren Strober, Michelle A Linterman, Paul T Wingfield, Holm H Uhlig, Rahul Roychoudhuri, Timothy J Aitman, Peter Kelleher, Michael J Lenardo, John J O'Shea, Nichola Cooper, Arian D J Laurence
The transcriptional programs that guide lymphocyte differentiation depend on the precise expression and timing of transcription factors (TFs). The TF BACH2 is essential for T and B lymphocytes and is associated with an archetypal super-enhancer (SE). Single-nucleotide variants in the BACH2 locus are associated with several autoimmune diseases, but BACH2 mutations that cause Mendelian monogenic primary immunodeficiency have not previously been identified. Here we describe a syndrome of BACH2-related immunodeficiency and autoimmunity (BRIDA) that results from BACH2 haploinsufficiency...
May 22, 2017: Nature Immunology
https://www.readbyqxmd.com/read/28523196/neoplasia-in-cri-du-chat-syndrome-from-italian-and-german-databases
#3
Andrea Guala, Marianna Spunton, Silvia Kalantari, Ingo Kennerknecht, Cesare Danesino
Cri du Chat syndrome (CdC) is a chromosomal abnormality (deletion of short arm of chromosome 5) associated with intellectual disability and typical anatomical abnormalities. Research up to now focuses on the management of the disease during childhood. The longer lifespan of these patients warrants deeper investigations of how and if aging could be affected by the syndrome. We decided to focus on the association of the disease with proliferative disorders. Data on proliferative disorders in a cohort of 321 patients from Italian and German Cri du Chat databases were collected...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28516957/asxl2-is-essential-for-haematopoiesis-and-acts-as-a-haploinsufficient-tumour-suppressor-in-leukemia
#4
Jean-Baptiste Micol, Alessandro Pastore, Daichi Inoue, Nicolas Duployez, Eunhee Kim, Stanley Chun-Wei Lee, Benjamin H Durham, Young Rock Chung, Hana Cho, Xiao Jing Zhang, Akihide Yoshimi, Andrei Krivtsov, Richard Koche, Eric Solary, Amit Sinha, Claude Preudhomme, Omar Abdel-Wahab
Additional sex combs-like (ASXL) proteins are mammalian homologues of additional sex combs (Asx), a regulator of trithorax and polycomb function in Drosophila. While there has been great interest in ASXL1 due to its frequent mutation in leukemia, little is known about its paralog ASXL2, which is frequently mutated in acute myeloid leukemia patients bearing the RUNX1-RUNX1T1 (AML1-ETO) fusion. Here we report that ASXL2 is required for normal haematopoiesis with distinct, non-overlapping effects from ASXL1 and acts as a haploinsufficient tumour suppressor...
May 18, 2017: Nature Communications
https://www.readbyqxmd.com/read/28515487/functional-interaction-between-fus-and-smn-underlies-sma-like-splicing-changes-in-wild-type-hfus-mice
#5
Alessia Mirra, Simona Rossi, Silvia Scaricamazza, Michela Di Salvio, Illari Salvatori, Cristiana Valle, Paola Rusmini, Angelo Poletti, Gianluca Cestra, Maria Teresa Carrì, Maur O Cozzolino
Several of the identified genetic factors in Amyotrophic Lateral Sclerosis (ALS) point to dysfunction in RNA processing as a major pathogenic mechanism. However, whether a precise RNA pathway is particularly affected remains unknown. Evidence suggests that FUS, that is mutated in familial ALS, and SMN, the causative factor in Spinal Muscular Atrophy (SMA), cooperate to the same molecular pathway, i.e. regulation of alternative splicing, and that disturbances in SMN-regulated functions, either caused by depletion of SMN protein (as in the case of SMA) or by pathogenic interactions between FUS and SMN (as in the case of ALS) might be a common theme in both diseases...
May 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28513610/haploinsufficiency-of-znf462-is-associated-with-craniofacial-anomalies-corpus-callosum-dysgenesis-ptosis-and-developmental-delay
#6
Karin Weiss, Kristen Wigby, Madeleine Fannemel, Lindsay B Henderson, Natalie Beck, Neeti Ghali, D D D Study, Britt-Marie Anderlid, Johanna Lundin, Ada Hamosh, Marilyn C Jones, Sondhya Ghedia, Maximilian Muenke, Paul Kruszka
The introduction of whole-exome sequencing into the Pediatric Genetics clinic has increased the identification of novel genes associated with neurodevelopmental disorders and congenital anomalies. This agnostic approach has shed light on multiple proteins and pathways not previously known to be associated with disease. Here we report eight subjects from six families with predicted loss of function variants in ZNF462, a zinc-finger protein of unknown function. These individuals have overlapping phenotypes that include ptosis, metopic ridging, craniosynostosis, dysgenesis of the corpus callosum, and developmental delay...
May 17, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28510119/genetic-epidemiology-of-titin-truncating-variants-in-the-etiology-of-dilated-cardiomyopathy
#7
REVIEW
Ali M Tabish, Valerio Azzimato, Aris Alexiadis, Byambajav Buyandelger, Ralph Knöll
Heart failure (HF) is a complex clinical syndrome defined by the inability of the heart to pump enough blood to meet the body's metabolic demands. Major causes of HF are cardiomyopathies (diseases of the myocardium associated with mechanical and/or electrical dysfunction), among which the most common form is dilated cardiomyopathy (DCM). DCM is defined by ventricular chamber enlargement and systolic dysfunction with normal left ventricular wall thickness, which leads to progressive HF. Over 60 genes are linked to the etiology of DCM...
May 5, 2017: Biophysical Reviews
https://www.readbyqxmd.com/read/28507181/fli1-deficiency-induces-cxcl6-expression-in-dermal-fibroblasts-and-endothelial-cells-contributing-to-the-development-of-fibrosis-and-vasculopathy-in-systemic-sclerosis
#8
Takashi Taniguchi, Yoshihide Asano, Kouki Nakamura, Takashi Yamashita, Ryosuke Saigusa, Yohei Ichimura, Takehiro Takahashi, Tetsuo Toyama, Ayumi Yoshizaki, Shinichi Sato
OBJECTIVE: CXCL6, a chemokine with proangiogenic property, is reported to be involved in vasculopathy associated with systemic sclerosis (SSc). We investigated the contribution of CXCL6 to SSc development by focusing on the association of friend leukemia virus integration 1 (Fli1) deficiency, a potential predisposing factor of SSc, with CXCL6 expression and clinical correlation of serum CXCL6 levels. METHODS: mRNA levels of target genes and the binding of Fli1 to the CXCL6 promoter were evaluated by quantitative reverse transcription-PCR and chromatin immunoprecipitation, respectively...
May 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28504353/cmip-haploinsufficiency-in-two-patients-with-autism-spectrum-disorder-and-co-occurring-gastrointestinal-issues
#9
Minjie Luo, Jinbo Fan, Tara L Wenger, Margaret H Harr, Melissa Racobaldo, Surabhi Mulchandani, Holly Dubbs, Elaine H Zackai, Nancy B Spinner, Laura K Conlin
Autism spectrum disorder (ASD) is a genetically heterogeneous group of disorders characterized by impairments in social communication and restricted interests. Though some patients with ASD have an identifiable genetic cause, the cause of most ASD remains elusive. Many ASD susceptibility loci have been identified through clinical studies. We report two patients with syndromic ASD and persistent gastrointestinal issues who carry de novo deletions involving the CMIP gene detected by genome-wide SNP microarray and fluorescence in situ hybridization (FISH) analysis...
May 15, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28501893/hspb8-haploinsufficiency-causes-dominant-adult-onset-axial-and-distal-myopathy
#10
Andoni Echaniz-Laguna, Xavière Lornage, Béatrice Lannes, Raphaël Schneider, Guillaume Bierry, Nicolas Dondaine, Anne Boland, Jean-François Deleuze, Johann Böhm, Julie Thompson, Jocelyn Laporte, Valérie Biancalana
No abstract text is available yet for this article.
May 13, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28499781/aplastic-anemia-and-cytotoxic-t-lymphocyte-antigen-4-haploinsufficiency-treated-with-bone-marrow-transplantation
#11
Payal Makadia, Arvind Srinath, Suneeta Madan-Khetarpal, Marianne McGuire, Elena Infante, Jing Zhang, Raymond E Felgar, Amy W Davis, Hey J Chong, Randy M Windreich
No abstract text is available yet for this article.
May 9, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28498391/hypospadias-in-a-male-infant-with-an-unusual-mosaic-45-x-46-x-psu-idic-y-p11-32-46-xy-and-haploinsufficiency-of-shox-a-case-report
#12
Yan-Mei Si, Yuan Dong, Wei Wang, Ke-Yan Qi, Xin Wang
A male newborn presented with hypospadias and differential testicular volumes. Short femur length was detected four times during pregnancy, at 23, 31, 32 and 33 weeks, by ultrasonographic examination. Chromosome analysis was performed on peripheral lymphocytes obtained from the infant and his parents. Fluorescent in situ hybridization (FISH), using sex determining region Y (SRY)/DXZ1 and DYZ3 probes, was performed to verify the deletion of the SRY gene (located on Yp11.3 region) and the activation of Y chromosomal centromeres...
May 10, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28495799/studies-on-truncating-mutations-of-spast-associated-with-hereditary-spastic-paraplegia-indicate-greater-accumulation-and-toxicity-of-the-m1-isoform-of-spastin
#13
Joanna M Solowska, Anand N Rao, Peter W Baas
The SPAST gene, which produces two isoforms (M1 and M87) of the microtubule-severing protein called spastin, is the chief gene mutated in hereditary spastic paraplegia. Haploinsufficiency is a popular explanation for the disease, in part because most of the over 200 pathogenic mutations of the gene are truncating, and expected to produce only vanishingly small amounts of shortened proteins. Here we studied two such mutations, N184X and S245X, and our results suggest another possibility. We found that the truncated M1 proteins can accumulate to notably higher levels than their truncated M87 or wild-type counterparts...
May 11, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28492551/haploinsufficiency-in-the-mitochondrial-protein-chchd4-reduces-brain-injury-in-a-mouse-model-of-neonatal-hypoxia-ischemia
#14
Yanyan Sun, Tao Li, Cuicui Xie, Yiran Xu, Kai Zhou, Juan Rodriguez, Wei Han, Xiaoyang Wang, Guido Kroemer, Nazanine Modjtahedi, Klas Blomgren, Changlian Zhu
Mitochondria contribute to neonatal hypoxic-ischemic brain injury by releasing potentially toxic proteins into the cytosol. CHCHD4 is a mitochondrial intermembrane space protein that plays a major role in the import of intermembrane proteins and physically interacts with apoptosis-inducing factor (AIF). The purpose of this study was to investigate the impact of CHCHD4 haploinsufficiency on mitochondrial function and brain injury after cerebral hypoxia-ischemia (HI) in neonatal mice. CHCHD4(+/-) and wild-type littermate mouse pups were subjected to unilateral cerebral HI on postnatal day 9...
May 11, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28479384/beclin1-antagonizes-laptm4b-mediated-egfr-overactivation-in-gastric-cancer-cells
#15
Miao Tian, Yu Chen, Dan Tian, Xiaofang Qiao, Zhiming Ma, Jinlong Li
Beclin1 is an essential autophagy regulator and a haploinsufficient tumor-suppressor. Reduced Berclin1 expression has been associated with many types of human malignancies including gastric cancer. However, the mechanism of how Beclin1 represses tumorigenesis of gastric cancer remains elusive. In recent proteomics study, we found that Beclin1 is associated with Lysosome-associated transmembrane protein 4β (LAPTM4B). LAPTM4B plays an important role in promoting the growth and proliferation of tumor cells, it is overexpressed in a variety of solid tumors and serves as a biomarker for tumor therapy...
May 4, 2017: Gene
https://www.readbyqxmd.com/read/28475878/gotta-have-gata-for-human-pancreas-development
#16
David S Lorberbaum, Lori Sussel
Haploinsufficient GATA6 mutations are associated with human pancreatic agenesis. Shi et al. (2017) in this issue of Cell Stem Cell and Tiyaboonchai et al. (2017) in a recent issue of Cell Reports utilize hPSCs to characterize GATA6 function during human pancreas development. One functional copy of GATA6 is sufficient for definitive endoderm development and pancreas formation, but it is inadequate for functional β cell differentiation.
May 4, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/28473694/accumulation-of-multiple-neurodegenerative-disease-related-proteins-in-familial-frontotemporal-lobar-degeneration-associated-with-granulin-mutation
#17
Masato Hosokawa, Hiromi Kondo, Geidy E Serrano, Thomas G Beach, Andrew C Robinson, David M Mann, Haruhiko Akiyama, Masato Hasegawa, Tetsuaki Arai
In 2006, mutations in the granulin gene were identified in patients with familial Frontotemporal Lobar Degeneration. Granulin transcript haploinsufficiency has been proposed as a disease mechanism that leads to the loss of functional progranulin protein. Granulin mutations were initially found in tau-negative patients, though recent findings indicate that these mutations are associated with other neurodegenerative disorders with tau pathology, including Alzheimer's disease and corticobasal degeneration. Moreover, a reduction in progranulin in tau transgenic mice is associated with increasing tau accumulation...
May 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28471497/haploinsufficiency-of-nadph-oxidase-subunit-ncf2-is-sufficient-to-accelerate-full-blown-lupus-in-nzm-2328-mice
#18
Chaim O Jacob, Ning Yu, Dae-Goon Yoo, Lizet J Perez-Zapata, Emilia Alina Barbu, Mariana J Kaplan, Monica Purmalek, Jeanette T Pingel, Rachel A Idol, Mary C Dinauer
OBJECTIVE: We have previously established that NCF2 (Neutrophil cytosolic factor 2) is a lupus predisposing gene and identified lupus patients with point mutations that are predicted to cause reduced NADPH oxidase activity. This study was undertaken to investigate the relationship between reduced leukocyte NADPH oxidase activity and immune dysregulation associated with SLE. METHODS: We generated NCF2-null mice, in which NADPH oxidase activity is absent, on the non-autoimmune C57BL/6 background and on the NZM...
May 4, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28469620/nf-%C3%AE%C2%BAb-pathway-in-autoinflammatory-diseases-dysregulation-of-protein-modifications-by-ubiquitin-defines-a-new-category-of-autoinflammatory-diseases
#19
REVIEW
Ivona Aksentijevich, Qing Zhou
Autoinflammatory diseases are caused by defects in genes that regulate the innate immunity. Recently, the scope of autoinflammation has been broadened to include diseases that result from dysregulations in protein modifications by the highly conserved ubiquitin (Ub) peptides. Thus far these diseases consist of linear ubiquitin chain assembly complex (LUBAC) and OTULIN deficiencies, and haploinsufficiency of A20. The LUBAC is critical for linear ubiquitination of key signaling molecules in immune response pathways, while deubiquitinase enzymes, OTULIN and TNFAIP3/A20, reverse the effects of ubiquitination by hydrolyzing linear (Met1) and Lys63 (K63) Ub moieties, respectively, from conjugated proteins...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28468951/insulin-resistance-promotes-lysyl-oxidase-like-2induction-and-fibrosis-accumulation-in-nonalcoholic-fatty-liver-disease
#20
Paola Dongiovanni, Marica Meroni, Guido Alessandro Baselli, Giulia Alessandra Bassani, Raffaela Rametta, Alessandro Pietrelli, Marco Maggioni, Federica Facciotti, Valentina Trunzo, Sara Badiali, Silvia Fargion, Stefano Gatti, Luca Vittorio Carlo Valenti
Background & Aims: In patients with nonalcoholic fatty liver disease (NAFLD), insulin resistance (IR) associates with fibrosis progression independently of hepatic inflammation, but the mechanisms are still unclear. Methods : We modeled the independent contribution of inflammation (steatohepatitis: NASH) by exploiting the methionine-choline deficient (MCD) diet, and that of IR by insulin receptor haploinsufficiency (InsR+/-), in the pathogenesis of liver fibrosis in C57Bl/6 mice. We confirmed study findings in 96 patients with NAFLD...
May 3, 2017: Clinical Science (1979-)
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