keyword
MENU ▼
Read by QxMD icon Read
search

Mutated gene

keyword
https://www.readbyqxmd.com/read/28098945/frequency-of-cnksr2-mutation-in-the-x-linked-epilepsy-aphasia-spectrum
#1
John A Damiano, Rosemary Burgess, Sara Kivity, Tally Lerman-Sagie, Zaid Afawi, Ingrid E Scheffer, Samuel F Berkovic, Michael S Hildebrand
Synaptic proteins are critical to neuronal function in the brain, and their deficiency can lead to seizures and cognitive impairments. CNKSR2 (connector enhancer of KSR2) is a synaptic protein involved in Ras signaling-mediated neuronal proliferation, migration and differentiation. Mutations in the X-linked gene CNKSR2 have been described in patients with seizures and neurodevelopmental deficits, especially those affecting language. In this study, we sequenced 112 patients with phenotypes within the epilepsy-aphasia spectrum (EAS) to determine the frequency of CNKSR2 mutation within this complex set of disorders...
January 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28098937/sodium-selenate-treatment-improves-symptoms-and-seizure-susceptibility-in-a-malin-deficient-mouse-model-of-lafora-disease
#2
Gentzane Sánchez-Elexpuru, José M Serratosa, Marina P Sánchez
OBJECTIVE: To search for new therapies aimed at ameliorating the neurologic symptoms and epilepsy developing in patients with Lafora disease. METHODS: Lafora disease is caused by loss-of-function mutations in either the EPM2A or EPM2B genes. Epm2a(-/-) and Epm2b(-/-) mice display neurologic and behavioral abnormalities similar to those found in patients. Selenium is a potent antioxidant and its deficiency has been related to the development of certain diseases, including epilepsy...
January 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28098911/diagnosis-for-choroideremia-in-a-large-chinese-pedigree-by-next%C3%A2-generation-sequencing-ngs-and-non%C3%A2-invasive-prenatal-testing-nipt
#3
Li Zhu, Jingliang Cheng, Boxu Zhou, Chunli Wei, Weichan Yang, Dong Jiang, Iqra Ijaz, Xiaojun Tan, Rui Chen, Junjiang Fu
To develop an effective strategy to isolate and use cell‑free fetal DNA (cffDNA) for the combined use of next‑generation sequencing (NGS) for diagnosing choroideremia and non‑invasive prenatal testing (NIPT) for Y chromosome determination, a large Chinese family with an X‑linked recessive disease, choroideremia, was recruited. Cell‑free DNA was extracted from maternal plasma, and SRY polymerase chain reaction amplification was performed using NIPT. Sanger sequencing was subsequently used for fetal amniotic fluid DNA verification...
January 13, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28098909/biology-and-function-of-glypican-3-as-a-candidate-for-early-cancerous-transformation-of-hepatocytes-in-hepatocellular-carcinoma-review
#4
Mauro Montalbano, Jeremias Georgiadis, Ashlyn L Masterson, Joshua T McGuire, Janika Prajapati, Ali Shirafkan, Cristiana Rastellini, Luca Cicalese
Glypican-3 (GPC-3), a transmembrane heparan sulfate proteoglycan (HSPG), has recently been investigated as a player in tissue-dependent cellular signaling, specifically as a regulator of growth. Noteworthy, the regulatory protein has been implicated in both stimulatory and inhibitory pathways involving cell growth. Initially, GPC-3 was thought to act as a cell cycle regulator, as a loss-of-function mutation in the gene caused a hyper-proliferative state known as Simpson-Golabi-Behmel (SGB) overgrowth syndrome...
January 18, 2017: Oncology Reports
https://www.readbyqxmd.com/read/28098895/microrna-133b-is-regulated-by-tap63-while-no-gene-mutation-is-present-in-colorectal-cancer
#5
Yifei Chen, Yi Zhang, Jianhuai He, Ying Fu, Changwei Lin, Xiaorong Li
Downregulation of miR-133b has been reported in multiple types of malignancies including colorectal cancer (CRC). We previously confirmed that TAp63 actively translates microRNA-133b (miR-133b) transcripts. While the presence of miRNA mutations have frequently been described in CRC, most CRCs do not show any variation in the miR‑133b coding sequence. Therefore, it is important to elucidate the relationship between TAp63 and miR-133b, and identify other mediators of miR-133b downregulation in CRC. The expression of TAp63 was detected by RT-qPCR, western blotting, immunohistochemistry (IHC) and densitometric analysis using Image-Pro Plus 6...
January 16, 2017: Oncology Reports
https://www.readbyqxmd.com/read/28098793/osteocyte-alterations-induce-osteoclastogenesis-in-an-in-vitro-model-of-gaucher-disease
#6
Constanza Bondar, Maximiliano Ormazabal, Andrea Crivaro, Malena Ferreyra-Compagnucci, María Victoria Delpino, Paula Adriana Rozenfeld, Juan Marcos Mucci
Gaucher disease (GD) is caused by mutations in the glucosylceramidase β (GBA 1) gene that confer a deficient level of activity of glucocerebrosidase (GCase). This deficiency leads to the accumulation of the glycolipid glucocerebroside in the lysosomes of cells, mainly in the monocyte/macrophage lineage. Its mildest form is Type I GD, characterized by non-neuronopathic involvement. Bone compromise is the most disabling aspect of the Gaucher disease. However, the pathophysiological aspects of skeletal alterations are not yet fully understood...
January 13, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28098710/stellate-nonhereditary-idiopathic-foveomacular-retinoschisis-accompanied-by-contralateral-peripheral-retinoschisis
#7
Daniel Ahmed, Martin Stattin, Carl Glittenberg, Ilse Krebs, Siamak Ansari-Shahrezaei
PURPOSE: To present a patient with stellate nonhereditary idiopathic foveomacular retinoschisis on one eye and peripheral retinoschisis without foveal affection on the other eye. METHODS: A case report with complete workup of family history and clinical examination, including multimodal imaging with optical coherence tomography and angiography, fluorescein angiography, and infrared fundus imaging. Genetic testing for gene mutation XRLS1 was performed. RESULTS: A white woman with unremarkable medical history presented with stellate foveal splitting of the outer plexiform layer on the right eye and peripheral splitting of the outer plexiform layer on both eyes...
January 16, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28098447/the-stories-tryptophans-tell-exploring-protein-dynamics-of-heptosyltransferase-i-from-escherichia-coli
#8
Joy M Cote, Carlos Andres Ramirez-Mondragon, Zarek S Siegel, Daniel Joseph Czyzyk, Jiali Gao, Yuk Yin Sham, Ishita Mukerji, Erika A Taylor
Heptosyltransferase I (HepI) catalyzes the addition of a single L-glycero-β-D-manno-heptose sugar (heptose) onto the membrane incorporated Kdo2-Lipid A as part of the biosynthesis of the core region of lipopolysaccharide (LPS). Gram-negative bacteria with gene knockouts of HepI have reduced virulence with enhanced susceptibility to hydrophobic antibiotics, making design of inhibitors against HepI of interest. Previous studies have shown that HepI protein dynamics are partially rate limiting, and therefore disruption of protein dynamics might provide a new strategy for inhibiting HepI...
January 18, 2017: Biochemistry
https://www.readbyqxmd.com/read/28098348/impact-of-lysosomal-storage-disorders-on-biology-of-mesenchymal-stem-cells-evidences-from-in-vitro-silencing-of-glucocerebrosidase-gba-and-alpha-galactosidase-a-gla-enzymes
#9
T Squillaro, I Antonucci, N Alessio, A Esposito, M Cipollaro, Mab Melone, G Peluso, L Stuppia, U Galderisi
Lysosomal storage disorders (LDS) comprise a group of rare multisystemic diseases resulting from inherited gene mutations that impair lysosomal homeostasis. The most common LSDs, Gaucher disease (GD) and Fabry disease (FD) are caused by deficiencies in the lysosomal glucocerebrosidase (GBA) and alpha-galactosidase A (GLA) enzymes, respectively. Given the systemic nature of enzyme deficiency, we hypothesized that the stem cell compartment of GD and FD patients might be also affected. Among stem cells, mesenchymal stem cells (MSCs) are a commonly investigated population given their role in hematopoiesis and the homeostatic maintenance of many organs and tissues...
January 18, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28098220/comparative-transcriptome-analysis-of-raccoon-dog-skin-to-determine-melanin-content-in-hair-and-melanin-distribution-in-skin
#10
Zhanyu Du, Kai Huang, Jiaping Zhao, Xingchao Song, Xiumei Xing, Qiong Wu, Linbo Zhang, Chao Xu
The raccoon dog (Nyctereutes procyonoides) is an important canid fur-bearing animal species worldwide. Chinese raccoon dogs that present a white mutation, especially those with a white coat. Exploring melanin biosynthesis in the hair and skin of raccoon dogs is important for understanding the survival and evolutionary mechanisms of them. In this study, we measured the content of melanin in the hair of two types of raccoon dog and generated stained slices of skin tissue. The results indicated that melanin biosynthesis occurs in the wild-type (W) and white-type (B) raccoon dog skin, although less melanin is produced in B skin...
January 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28098200/cullin-7-mediates-proteasomal-and-lysosomal-degradations-of-rat-eag1-potassium-channels
#11
Po-Hao Hsu, Yu-Ting Ma, Ya-Ching Fang, Jing-Jia Huang, Yu-Ling Gan, Pei-Tzu Chang, Guey-Mei Jow, Chih-Yung Tang, Chung-Jiuan Jeng
Mammalian Eag1 (Kv10.1) potassium (K(+)) channels are widely expressed in the brain. Several mutations in the gene encoding human Eag1 K(+) channel have been associated with congenital neurodevelopmental anomalies. Currently very little is known about the molecules mediating protein synthesis and degradation of Eag1 channels. Herein we aim to ascertain the protein degradation mechanism of rat Eag1 (rEag1). We identified cullin 7 (Cul7), a member of the cullin-based E3 ubiquitin ligase family, as a novel rEag1 binding partner...
January 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28098115/a-novel-fibrillin-1-mutation-in-an-egyptian-marfan-family-a-proband-showing-nephrotic-syndrome-due-to-focal-segmental-glomerulosclerosis
#12
Mohammad Al-Haggar, Ashraf Bakr, Yahya Wahba, Paul J Coucke, Fatma El-Hussini, Mona Hafez, Riham Eid, Abdel-Rahman Eid, Amr Sarhan, Ali Shaltout, Ayman Hammad, Sohier Yahia, Ahmad El-Rifaie, Dina Abdel-Hadi
Marfan syndrome (MFS), the founding member of connective tissue disorder, is an autosomal dominant disease; it is caused by a deficiency of the microfibrillar protein fibrillin-1 (FBN1) and characterized by involvement of three main systems; skeletal, ocular, and cardiovascular. More than one thousand mutations in FBN1 gene on chromosome 15 were found to cause MFS. Nephrotic syndrome (NS) had been described in very few patients with MFS being attributed to membranoproliferative glomerulonephritis secondary to infective endocarditis...
January 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28097854/-citrullinemia-type-i-with-recurrent-liver-failure-in-a-child
#13
Verónica Bindi, Hernán Eiroa
Citrullinemia type I is an autosomal recessive disorder caused by mutation of the gene expressing ASS1 argininosuccinate synthetase, limiting enzyme of the urea cycle. The classic variants are associated with neonatal/infantile forms that cause hyperammonemia leading to death if treatment is not established. Initial symptoms of disorders of the urea cycle include neurological impairment with mild or moderate liver damage. We report a case of recurrent liver failure in an infant diagnosed with type I citrullinemia without severe neurological involvement that was referred to our center for liver transplantation...
February 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28097853/-clinical-and-molecular-study-in-a-family-with-autosomal-dominant-hypohidrotic-ectodermal-dysplasia
#14
Michele Callea, Francisco Cammarata-Scalisi, Colin E Willoughby, Sabrina R Giglio, Ilaria Sani, Sara Bargiacchi, Giovanna Traficante, Emanuele Bellacchio, Gianluca Tadini, Izzet Yavuz, Angela Galeotti, Gabriella Clarich
Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Mutations in EDAR and EDARADD genes cause autosomal dominant and recessive form of HED. The most striking clinical findings in HED are hypodontia, hypotrichosis and hypohidrosis that can lead to episodes of hyperthermia...
February 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28097802/genomic-analysis-and-clinical-management-of-adolescent-cutaneous-melanoma
#15
Roy Rabbie, Mamun Rashid, Ana M Arance, Marcelo Sánchez, Gemma Tell-Marti, Miriam Potrony, Carles Conill, Remco van Doorn, Stefan Dentro, Nellele A Gruis, Pippa Corrie, Vivek Iyer, Carla Daniela Robles-Espinoza, Joan A Puig-Butille, Susana Puig, David J Adams
Melanoma in young children is rare, however its incidence in adolescents and young adults is rising. We describe the clinical course of a 15-year-old female diagnosed with AJCC stage IB non-ulcerated primary melanoma, who died from metastatic disease four years after diagnosis despite three lines of modern systemic therapy. We also present the complete genomic profile of her tumour and compare this to a further series of 13 adolescent melanomas, and 275 adult cutaneous melanomas. A somatic BRAF(V)(600E) mutation and a high mutational load equivalent to that found in adult melanoma, and composed primarily of C>T mutations was observed...
January 17, 2017: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/28097785/down-regulation-of-bnda1-whose-gene-locus-is-associated-with-the-seeds-weight-improves-the-seeds-weight-and-organ-size-in-brassica-napus
#16
Jie-Li Wang, Min-Qiang Tang, Sheng Chen, Xiang-Feng Zheng, Hui-Xian Mo, Sheng-Jun Li, Zheng Wang, Ke-Ming Zhu, Li-Na Ding, Sheng-Yi Liu, Yun-Hai Li, Xiao-Li Tan
Brassica napus L. is an important oil crop worldwide, and is the main raw material for biofuel. Seed weight and seed size are the main contributors to seed yield. DA1 (DA means big in Chinese) is an ubiquitin receptor and negatively regulates seed size. Down-regulation of AtDA1 in Arabidopsis leads to larger seeds and organs by increasing cell proliferation in integuments. In this study, BnDA1was down-regulated in B. napus by over expressed of AtDA1(R358K) , which is a functional deficiency of DA1 with an arginine-to-lysine mutation at the 358(th) amino acid...
January 17, 2017: Plant Biotechnology Journal
https://www.readbyqxmd.com/read/28097783/type-iii-pleuropulmonary-blastoma-in-a-dicer1-germline-mutation-carrier-the-management-of-residual-lung-cystic-lesions
#17
Ana M Fita, Esther Llinares-Riestra, Ernesto Doménech-Abellán, Mar Bermúdez-Cortés, Ana M Galera-Miñarro, Agueda Bas-Bernal, José L Fuster-Soler
Pleuropulmonary blastoma (PPB) is a rare malignancy of childhood. It often represents a manifestation of a hereditary tumor predisposition syndrome (DICER1 syndrome). Because of its malignant potential, surgical resection of cystic lung lesions is recommended in germline DICER1 mutation carriers. We present a case of a 3-year-old male child with type III PPB successfully managed with ifosfamide, vincristine, actinomycin-D, and doxorubicin (IVADo) chemotherapy and surgery. A heterozygous germline pR688X mutation of DICER1 gene was demonstrated...
January 18, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28097511/brain-calcification-and-movement-disorders
#18
REVIEW
Vladimir S Kostić, Igor N Petrović
Brain calcifications may be an incidental finding on neuroimaging in normal, particularly older individuals, but can also indicate numerous hereditary and nonhereditary syndromes, and metabolic, environmental, infectious, autoimmune, mitochondrial, traumatic, or toxic disorders. Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyond the basal ganglia...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28097440/prevalence-of-nras-pten-and-akt1-gene-mutations-in-the-central-nervous-system-metastases-of-non-small-cell-lung-cancer
#19
Marcin Nicoś, Paweł Krawczyk, Bożena Jarosz, Marek Sawicki, Tomasz Trojanowski, Janusz Milanowski
Somatic mutations in NRAS, PTEN and AKT1 genes are rarely (~1%) reported in primary NSCLC, but their role in carcinogenesis have been proven. Therefore, we assessed the frequency of them in 145 FFPE tissue samples from CNS metastases of NSCLC using the real-time PCR technique. We identified four (two NRAS and single AKT1 and PTEN) mutations in CNS metastases of NSCLC. All mutations were observed in current male smokers (4% out of the male group; 4/100 and 4.25% out of smokers; 4/94). Three mutations have been detected in patients with SqCC (10...
January 17, 2017: Brain Tumor Pathology
https://www.readbyqxmd.com/read/28097321/diagnostic-yield-and-novel-candidate-genes-by-exome-sequencing-in-152-consanguineous-families-with-neurodevelopmental-disorders
#20
Miriam S Reuter, Hasan Tawamie, Rebecca Buchert, Ola Hosny Gebril, Tawfiq Froukh, Christian Thiel, Steffen Uebe, Arif B Ekici, Mandy Krumbiegel, Christiane Zweier, Juliane Hoyer, Karolin Eberlein, Judith Bauer, Ute Scheller, Tim M Strom, Sabine Hoffjan, Ehab R Abdelraouf, Nagwa A Meguid, Ahmad Abboud, Mohammed Ayman Al Khateeb, Mahmoud Fakher, Saber Hamdan, Amina Ismael, Safia Muhammad, Ebtessam Abdallah, Heinrich Sticht, Dagmar Wieczorek, André Reis, Rami Abou Jamra
Importance: Autosomal recessive inherited neurodevelopmental disorders are highly heterogeneous, and many, possibly most, of the disease genes are still unknown. Objectives: To promote the identification of disease genes through confirmation of previously described genes and presentation of novel candidates and provide an overview of the diagnostic yield of exome sequencing in consanguineous families. Design, Setting, and Participants: Autozygosity mapping in families and exome sequencing of index patients were performed in 152 consanguineous families (the parents descended from a same ancestor) with at least 1 offspring with intellectual disability (ID)...
January 11, 2017: JAMA Psychiatry
keyword
keyword
12218
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"