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https://www.readbyqxmd.com/read/29765303/adnp-a-microtubule-interacting-protein-provides-neuroprotection-through-end-binding-proteins-and-tau-an-amplifier-effect
#1
Illana Gozes, Yanina Ivashko-Pachima, Carmen L Sayas
No abstract text is available yet for this article.
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29724491/clinical-presentation-of-a-complex-neurodevelopmental-disorder-caused-by-mutations-in-adnp
#2
Anke Van Dijck, Anneke T Vulto-van Silfhout, Elisa Cappuyns, Ilse M van der Werf, Grazia M Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, Malin Kvarnung, Tjitske Kleefstra, Bert B A de Vries, Sébastien Küry, Jill A Rosenfeld, Marije E Meuwissen, Geert Vandeweyer, R Frank Kooy
BACKGROUND: In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. However, a comprehensive clinical description of the Helsmoortel-Van der Aa syndrome is lacking. METHODS: We identified a worldwide cohort of 78 individuals with likely disruptive mutations in ADNP from January 2014 to October 2016 through systematic literature search, by contacting collaborators, and through direct interaction with parents...
March 15, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29605231/neutrophils-mediate-hiv-specific-antibody-dependent-phagocytosis-and-adcc
#3
Matthew J Worley, Kuangyu Fei, Adam J Lopez-Denman, Anthony D Kelleher, Stephen J Kent, Amy W Chung
There is growing evidence to support the role of Fc-mediated effector functions, such as Antibody-Dependent Cellular cytotoxicity (ADCC) and Antibody-Dependent Phagocytosis (ADP) in the protection and control of HIV. The RV144 trial and other recent HIV vaccine studies have highlighted the importance of ADCC responses in protection against HIV. The role of neutrophils, the most abundant leukocyte in the blood, has not been thoroughly evaluated for Fc-mediated effector functions to HIV. We optimized HIV-specific neutrophil ADCC and Antibody-Dependent Neutrophil Phagocytosis (ADNP) assays using freshly isolated primary human neutrophils from blood...
March 29, 2018: Journal of Immunological Methods
https://www.readbyqxmd.com/read/29475819/helsmoortel-van-der-aa-syndrome-as-emerging-clinical-diagnosis-in-intellectually-disabled-children-with-autistic-traits-and-ocular-involvement
#4
Giulia Pascolini, Emanuele Agolini, Silvia Majore, Antonio Novelli, Paola Grammatico, Maria Cristina Digilio
A recent syndromic condition with craniofacial dysmorphisms, comprising congenital ocular defect and neurodevelopmental delay named Helsmoortel-Van der Aa Syndrome (HVDAS) (OMIM#615873), has been described and molecularly defined, identifying pathogenic mutations in the ADNP gene (OMIM#611386) as biological cause. We report on two children, displaying intellectual disability (ID) and peculiar congenital eyes anomalies, both carrying a de novo nonsense mutation in the ADNP gene. The review of present and literature reports, suggests that the diagnosis of HVDAS should be suspected in patients with ID accompanied by behavioral features in the Autism Spectrum Disorder and distinctive craniofacial phenotype...
May 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29424797/mutation-in-the-adnp-gene-associated-with-noonan-syndrome-features
#5
Ebba Alkhunaizi, Magdalena A Walkiewicz, David Chitayat
No abstract text is available yet for this article.
April 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29405221/cylindrical-micelles-of-a-poss-amphiphilic-dendrimer-as-nano-reactors-for-polymerization
#6
Jing-Ting Weng, Tso-Fan Yeh, Ashok Zachariah Samuel, Yi-Fan Huang, Jyun-Hao Sie, Kuan-Yi Wu, Chi-How Peng, Hiro-O Hamaguchi, Chien-Lung Wang
A low generation amphiphilic dendrimer, POSS-AD, which has a POSS core and eight amphiphilic arms, was synthesized and used as a nano-reactor to produce well-defined polymer nano-cylinders. Confirmed by small-angle X-ray scattering (SAXS), Raman and NMR spectrometry, monodispersed cylindrical micelles that contain a hydrophilic cavity with a diameter of 2.09 nm and a length of 4.26 nm were produced via co-assembling POSS-AD with hydrophilic liquids, such as H2 O and HEMA in hydrophobic solvents. Taking the HEMA/POSS-AD cylindrical micelles as nano-reactors, polymerization of HEMA within the micelles results in polymer nano-cylinders (POSS-ADNPs) with a diameter of 2...
February 15, 2018: Nanoscale
https://www.readbyqxmd.com/read/29353437/correction-to-the-compassionate-side-of-neuroscience-tony-sermone-s-undiagnosed-genetic-journey-adnp-mutation
#7
Illana Gozes, Celine Helsmoortel, Geert Vandeweyer, Nathalie Van der Aa, Frank Kooy, Sandra Bedrosian-Sermone
The original version of this article unfortunately contained mistakes.
February 2018: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/29228712/the-cargo-protein-map17-pdzk1ip1-regulates-the-immune-microenvironment
#8
José M García-Heredia, Amancio Carnero
Inflammation is a complex defensive response activated after various harmful stimuli allowing the clearance of damaged cells and initiating healing and regenerative processes. Chronic, or pathological, inflammation is also one of the causes of neoplastic transformation and cancer development. MAP17 is a cargo protein that transports membrane proteins from the endoplasmic reticulum. Therefore, its overexpression may be linked to an excess of membrane proteins that may be recognized as an unwanted signal, triggering local inflammation...
November 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29119102/the-transcriptional-network-structure-of-a-myeloid-cell-a-computational-approach
#9
Jesús Espinal-Enríquez, Daniel González-Terán, Enrique Hernández-Lemus
Understanding the general principles underlying genetic regulation in eukaryotes is an incomplete and challenging endeavor. The lack of experimental information regarding the regulation of the whole set of transcription factors and their targets in different cell types is one of the main reasons to this incompleteness. So far, there is a small set of curated known interactions between transcription factors and their downstream genes. Here, we built a transcription factor network for human monocytic THP-1 myeloid cells based on the experimentally curated FANTOM4 database where nodes are genes and the experimental interactions correspond to links...
2017: International Journal of Genomics
https://www.readbyqxmd.com/read/29101799/s-allyl-cysteine-improves-clinical-and-neuropathological-features-of-experimental-autoimmune-encephalomyelitis-in-c57bl-6-mice
#10
Hossein Zeinali, Tourandokht Baluchnejadmojarad, Soudabeh Fallah, Mohsen Sedighi, Nariman Moradi, Mehrdad Roghani
Multiple sclerosis (MS) is a deleterious autoimmune and demyelinating disorder of the central nervous system with debilitating sensory and motor complications. There is still no definite cure for it and the main focus for its treatment mostly pivots around subsiding its severity and recurrence. Experimental autoimmune encephalomyelitis (EAE) is an established animal model of MS. S-allyl cysteine (SAC) is the active and main constituent of aged garlic extract with anti-inflammatory and neuroprotective property...
January 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29021836/specific-protein-biomarker-patterns-for-alzheimer-s-disease-improved-diagnostics-in-progress
#11
REVIEW
Illana Gozes
This short review looks at Alzheimer's disease (AD) diagnosis through my own point of view, going from imaging through cerebrospinal fluid to blood proteins. Over the last couple of years, we have published two papers targeted at Alzheimer's diagnosis. In one paper, we took an approach of selecting a specific target, namely, activity-dependent neuroprotective protein (ADNP), and our results tightened the association of ADNP blood expression with intelligence. In another paper, we took an unbiased approach of analysis of all genes expressed in lymphoblastoid cells lines and discovered changes in expression of the regulator of G-protein signaling 2 (RGS2) as a potential AD predictor...
September 2017: EPMA Journal
https://www.readbyqxmd.com/read/28940660/adnp-plays-a-key-role-in-autophagy-from-autism-to-schizophrenia-and-alzheimer-s-disease
#12
REVIEW
Shlomo Sragovich, Avia Merenlender-Wagner, Illana Gozes
Activity-dependent neuroprotective protein (ADNP), discovered in our laboratory in 1999, has been characterized as a master gene vital for mammalian brain formation. ADNP de novo mutations in humans result in a syndromic form of autism-like spectrum disorder (ASD), including cognitive and motor deficits, the ADNP syndrome (Helsmoortel-Van Der Aa). One of the most important cellular processes associated with ADNP is the autophagy pathway, recently discovered by us as a key player in the pathophysiology of schizophrenia...
September 21, 2017: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://www.readbyqxmd.com/read/28807863/prenatal-diagnosis-of-complex-phenotype-in-a-13-week-old-fetus-with-an-interstitial-multigene-deletion-20q13-13-q13-2-by-chromosomal-microarray
#13
Feodora Stipoljev, Danka Miric-Tesanic, Tomislav Hafner, Maja Barbalic, Monika Logara, Ruzica Lasan-Trcic, Ana Vicic, Romana Gjergja-Juraski
We report the first trimester three-dimensional ultrasonographic findings in a 13-week-old fetus with complex phenotype and a de novo 4.7 Mb multigene deletion encompassing chromosome region 20q13.13-q13.2 detected by chromosomal microarray. Fetal sonography detected radial-ray anomalies in the form of bilateral absence of thumbs and the left club hand deformity. The presence of single atrioventricular canal instead of the atrial septal defect typical for Holt-Oram syndrome pointed us to rather suspect the SALL4 related diseases...
November 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28724549/identification-of-new-tumor-suppressor-genes-in-triple-negative-breast-cancer
#14
Roberto Rangel, Liliana Guzman-Rojas, Takahiro Kodama, Michiko Kodama, Justin Y Newberg, Neal G Copeland, Nancy A Jenkins
Although genomic sequencing has provided a better understating of the genetic landmarks in triple-negative breast cancer (TNBC), functional validation of candidate cancer genes (CCG) remains unsolved. In this study, we used a transposon mutagenesis strategy based on a two-step Sleeping Beauty (SB) forward genetic screen to identify and validate new tumor suppressors (TS) in this disease. We generated 120 siRNAs targeting 40 SB-identified candidate breast cancer TS genes and used them to downregulate expression of these genes in four human TNBC cell lines...
July 19, 2017: Cancer Research
https://www.readbyqxmd.com/read/28675391/premature-primary-tooth-eruption-in-cognitive-motor-delayed-adnp-mutated-children
#15
I Gozes, A Van Dijck, G Hacohen-Kleiman, I Grigg, G Karmon, E Giladi, M Eger, Y Gabet, M Pasmanik-Chor, E Cappuyns, O Elpeleg, R F Kooy, S Bedrosian-Sermone
This corrects the article DOI: 10.1038/tp.2017.27.
July 4, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28579975/the-eight-and-a-half-year-journey-of-undiagnosed-ad-gene-sequencing-and-funding-of-advanced-genetic-testing-has-led-to-hope-and-new-beginnings
#16
Illana Gozes, Marc C Patterson, Anke Van Dijck, R Frank Kooy, Joseph N Peeden, Jacob A Eichenberger, Angela Zawacki-Downing, Sandra Bedrosian-Sermone
BACKGROUND: Activity-dependent neuroprotective protein (ADNP) is one of the most prevalent de novo mutated genes in syndromic autism spectrum disorders, driving a general interest in the gene and the syndrome. AIM: The aim of this study was to provide a detailed developmental case study of ADNP p.Tyr719* mutation toward improvements in (1) diagnostic procedures, (2) phenotypic scope, and (3) interventions. METHODS: Longitudinal clinical and parental reports...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28544734/cover-image-volume-173a-number-6-june-2017
#17
Toshiki Takenouchi, Tomoru Miwa, Yoshiaki Sakamoto, Yuri Sakaguchi, Tomoko Uehara, Takao Takahashi, Kenjiro Kosaki
The cover image, by Toshiki Takenouchi et al., is based on the Clinical Report Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene, DOI: 10.1002/ajmg.a.38126.
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28480925/a-melt-castable-energetic-cocrystal
#18
Jonathan C Bennion, Zohaib R Siddiqi, Adam J Matzger
An energetic cocrystal is described between 3,4-diaminofurazan (DAF) and 4-amino-3,5-dinitropyrazole (ADNP). The material is remarkable because interaction between the components leads to melting behavior and melt-state stabilization (absent in ADNP), that allows a melt castable formulation with explosive performance superior to DAF. This provides another potential advantage of cocrystallization for energetic materials.
June 1, 2017: Chemical Communications: Chem Comm
https://www.readbyqxmd.com/read/28475273/novel-features-of-helsmoortel-van-der-aa-adnp-syndrome-in-a-boy-with-a-known-pathogenic-mutation-in-the-adnp-gene-detected-by-exome-sequencing
#19
Chumei Li, Yongdong Wang, Marta Szybowska
No abstract text is available yet for this article.
May 5, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28436035/nap-counteracts-hyperglycemia-hypoxia-induced-retinal-pigment-epithelial-barrier-breakdown-through-modulation-of-hifs-and-vegf-expression
#20
Agata G D'Amico, Grazia Maugeri, Daniela M Rasà, Valentina La Cognata, Salvatore Saccone, Concetta Federico, Sebastiano Cavallaro, Velia D'Agata
Diabetic macular edema (DME) is a common complication leading to a central vision loss in patients with diabetes. In this eye pathology, the hyperglycaemic/hypoxic microenvironment of pigmented epithelium is responsible for outer blood retinal barrier integrity changes. More recently, we have shown that a small peptide derived from the activity-dependent neuroprotective protein (ADNP), known as NAP, counteracts damages occurring during progression of diabetic retinopathy by modulating HIFs/VEGF pathway. Here, we have investigated for the first time the role of this peptide on outer blood retinal barrier (BRB) integrity exposed to hyperglycaemic/hypoxic insult mimicking a model in vitro of DME...
February 2018: Journal of Cellular Physiology
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