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https://www.readbyqxmd.com/read/29672931/x-linked-ichthyosis-clinical-and-molecular-findings-in-35-italian-patients
#1
Andrea Diociaiuti, Adriano Angioni, Elisa Pisaneschi, Viola Alesi, Giovanna Zambruno, Antonio Novelli, May El Hachem
Recessive X-linked ichthyosis (XLI), the second most common ichthyosis, is caused by mutations in the STS gene encoding the steroid sulfatase enzyme. A complete deletion of the STS gene is found in 85-90% of cases. Rarely, larger deletions involving contiguous genes are detected in syndromic patients. We report the clinical and molecular genetic findings in a series of 35 consecutive Italian male patients. All patients underwent molecular testing by MLPA or aCGH, followed, in case of negative results, by next generation sequencing analysis...
April 19, 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/29670509/altered-gene-regulatory-function-of-kdm5c-by-a-novel-mutation-associated-with-autism-and-intellectual-disability
#2
Christina N Vallianatos, Clara Farrehi, Michael J Friez, Margit Burmeister, Catherine E Keegan, Shigeki Iwase
Intellectual disability (ID) affects up to 2% of the population world-wide and often coincides with other neurological conditions such as autism spectrum disorders. Mutations in KDM5C cause Mental Retardation, X-linked, Syndromic, Claes-Jensen type (MRXSCJ, OMIM #300534) and are one of the most common causes of X-linked ID. KDM5C encodes a histone demethylase for di- and tri-methylated histone H3 lysine 4 (H3K4me2/3), which are enriched in transcriptionally engaged promoter regions. KDM5C regulates gene transcription; however, it remains unknown whether removal of H3K4me is fully responsible for KDM5C-mediated gene regulation...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29669917/ribosomal-dna-copy-loss-and-repeat-instability-in-atrx-mutated-cancers
#3
Maheshi Udugama, Elaine Sanij, Hsiao P J Voon, Jinbae Son, Linda Hii, Jeremy D Henson, F Lyn Chan, Fiona T M Chang, Yumei Liu, Richard B Pearson, Paul Kalitsis, Jeffrey R Mann, Philippe Collas, Ross D Hannan, Lee H Wong
ATRX (alpha thalassemia/mental retardation X-linked) complexes with DAXX to deposit histone variant H3.3 into repetitive heterochromatin. Recent genome sequencing studies in cancers have revealed mutations in ATRX and their association with ALT (alternative lengthening of telomeres) activation. Here we report depletion of ATRX in mouse ES cells leads to selective loss in ribosomal RNA gene (rDNA) copy number. Supporting this, ATRX-mutated human ALT-positive tumors also show a substantially lower rDNA copy than ALT-negative tumors...
April 18, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29669291/a-cyfip2-dependent-excitatory-interneuron-pathway-establishes-the-innate-startle-threshold
#4
Kurt C Marsden, Roshan A Jain, Marc A Wolman, Fabio A Echeverry, Jessica C Nelson, Katharina E Hayer, Ben Miltenberg, Alberto E Pereda, Michael Granato
Sensory experiences dynamically modify whether animals respond to a given stimulus, but it is unclear how innate behavioral thresholds are established. Here, we identify molecular and circuit-level mechanisms underlying the innate threshold of the zebrafish startle response. From a forward genetic screen, we isolated five mutant lines with reduced innate startle thresholds. Using whole-genome sequencing, we identify the causative mutation for one line to be in the fragile X mental retardation protein (FMRP)-interacting protein cyfip2...
April 17, 2018: Cell Reports
https://www.readbyqxmd.com/read/29667327/novel-west-syndrome-candidate-genes-in-a-chinese-cohort
#5
Jing Peng, Ying Wang, Fang He, Chen Chen, Li-Wen Wu, Li-Fen Yang, Yu-Ping Ma, Wen Zhang, Zi-Qing Shi, Chao Chen, Kun Xia, Hui Guo, Fei Yin, Nan Pang
AIMS: West syndrome (WS) is a classic form of early infantile epileptic encephalopathy (EIEE) characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on electroencephalography. Genetic defects play a critical role in the pathology of WS, and 54 EIEE genes have been identified till date. This study was designed to uncover new candidate genes for West syndrome. METHODS: In this study, we recruited 56 Chinese families with WS of unknown etiology...
April 17, 2018: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/29660202/molecular-biomarkers-for-uterine-leiomyosarcoma-and-endometrial-stromal-sarcoma
#6
REVIEW
Hideaki Tsuyoshi, Yoshio Yoshida
Uterine leiomyosarcoma (u{\hyphen}LMS) and endometrial stromal sarcoma (ESS) are among the most frequent soft tissue sarcomas, which, in adults, lead to fatal lung metastases and have an extremely poor prognosis. Due to their rarity and heterogeneity, there are no suitable biomarkers for diagnosis and prognosis, though some biomarker candidates have appeared. Recently, The Cancer Genome Atlas (TCGA) projects dealing with u{\hyphen}LMS confirmed mutations and deletions in RB1, TP53, and PTEN. In addition, whole{\hyphen}exome sequencing of u{\hyphen}LMS has confirmed and demonstrated frequent alterations in TP53, RB1, α-thalassemia/mental retardation syndrome X-linked (ATRX), and mediator complex subunit 12 (MED12)...
April 16, 2018: Cancer Science
https://www.readbyqxmd.com/read/29656294/gray-matter-heterotopia-mental-retardation-developmental-delay-microcephaly-and-facial-dysmorphisms-in-a-boy-with-ring-chromosome-6-a-10-year-follow-up-and-literature-review
#7
Shu Liu, Zhiqing Wang, Sisi Wei, Jinqun Liang, Nuan Chen, Haimei OuYang, Weihong Zeng, Liying Chen, Xunjie Xie, Jianhui Jiang
Ring chromosome 6, r(6), is an extremely rare cytogenetic abnormality with clinical heterogeneity which arises typically de novo. The phenotypes of r(6) can be highly variable, ranging from almost normal to severe malformations and neurological defects. Up to now, only 33 cases have been reported in the literature. In this 10-year follow-up study, we report a case presenting distinctive facial features, severe developmental delay, and gray matter heterotopia with r(6) and terminal deletions of 6p25.3 (115426-384174, 268 kb) and 6q26-27 (168697778-170732033, 2...
April 14, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29655674/analysis-of-microrna-expression-in-the-thymus-of-myasthenia-gravis-patients-opens-new-research-avenues
#8
REVIEW
Mélanie A Cron, Solène Maillard, Fabien Delisle, Nolwenn Samson, Frédérique Truffault, Maria Foti, Elie Fadel, Julien Guihaire, Sonia Berrih-Aknin, Rozen Le Panse
In early-onset Myasthenia Gravis (MG) with anti-acetylcholine receptor antibodies, thymic abnormalities associated with ectopic germinal centers are frequent. miRNAs by acting as post-transcriptional regulators are involved in autoimmunity. To investigate the implication of miRNAs in thymic changes associated with early-onset MG, we performed a miRnome study and data were analyzed with different approaches. miRNAs of interest were further investigated by RT-PCR and transfection experiments for functional tests...
April 12, 2018: Autoimmunity Reviews
https://www.readbyqxmd.com/read/29653005/-analysis-of-a-patient-with-x-linked-mental-retardation-by-next-generation-sequencing
#9
Yuqiang Lyu, Yali Yang, Yi Liu, Zhongtao Gai
OBJECTIVE: To explore the clinical and genetic features of a Chinese boy featuring X-linked mental retardation. METHODS: Clinical features of the patient were analyzed. The DNA of the patient and his parents was extracted and sequenced by next generation sequencing. The results were validated and analyzed with software. RESULTS: The child displayed X-linked mental retardation. Sequencing showed the patient has carried a c.455T>C (p.L152P) mutation of the GRIA3 gene inherited from his mother...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29620584/endometrial-carcinoma-with-an-unusual-morphology-in-a-patient-with-cornelia-de-lange-syndrome-a-case-study
#10
Keisei Tate, Hiroshi Yoshida, Mitsuya Ishikawa, Hanako Shimizu, Takashi Uehara, Tomoyasu Kato
Cornelia de Lange syndrome (CdLS) is a cohesinopathy, which is characterized by multiple structural anomalies as well as mental and growth retardation. A 36-yr-old nulliparous woman with oligomenorrhea was referred to us due to a mass in the uterine corpus. She had been clinically diagnosed with CdLS during infancy based on her specific facial features as well as growth and intellectual retardation. Imaging examinations and an endometrial biopsy revealed endometrial endometrioid carcinoma and polycystic ovary syndrome (PCOS)...
April 3, 2018: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/29610157/clinical-benefit-of-nmda-receptor-antagonists-in-a-patient-with-atp1a2-gene-mutation
#11
Keisuke Ueda, Fatema Serajee, Ahm M Huq
Mutations in the ATP1A2 gene cause familial hemiplegic migraine type 2, alternating hemiplegia of childhood, and cerebellar function deficits, epilepsy, and mental retardation. These symptoms are likely related to glutamatergic hyperexcitability. Our patient is a 12-year-old boy with a history of complex partial seizures, attention-deficit/hyperactivity disorder, and fine motor difficulty. During early childhood, he had episodes of a self-resolving right-sided hemiparesis and focal epilepsy. His seizures did not respond to several antiepileptic medications but stopped after he received valproate...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29599705/of-men-and-mice-modeling-the-fragile-x-syndrome
#12
Regina Dahlhaus
The Fragile X Syndrome (FXS) is one of the most common forms of inherited intellectual disability in all human societies. Caused by the transcriptional silencing of a single gene, the fragile x mental retardation gene FMR1 , FXS is characterized by a variety of symptoms, which range from mental disabilities to autism and epilepsy. More than 20 years ago, a first animal model was described, the Fmr1 knock-out mouse. Several other models have been developed since then, including conditional knock-out mice, knock-out rats, a zebrafish and a drosophila model...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29593478/a-novel-gmppa-mutation-in-two-adult-sisters-with-achalasia-alacrima-short-stature-dysmorphism-and-intellectual-disability
#13
Edmar O Benítez, Juan J Morales, Luis A Muñoz, Christian A Hübner, Osvaldo M Mutchinick
The alacrima, achalasia, and mental retardation syndrome (AAMR) is a newly described autosomal recessive disorder characterized by the onset of these 3 main features at birth or in early infancy. At present, only 16 cases have been reported. Recently, it was shown that AAMR is due to mutations in the guanosine diphosphate (GDP)-mannose pyrophosphorylase A ( GMPPA ) gene. These mutations induce a significant GDP-mannose overload, which may affect protein glycosylation. Herein, for the first time, we describe 2 adult sisters with AAMR with a previously not reported deleterious homozygous missense mutation c...
February 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/29556302/tumor-suppressor-candidate-3-a-novel-grading-tool-and-predictor-of-clinical-malignancy-in-human-gliomas
#14
Jing Yuan, Xinshuang Yu, Aihua Wang, Yan Li, Fengjun Liu, Yao Wang, Shanmei Sun, Xiuyang Bing, Yiming Liu, Juan Du
For several years, the cause of autosomal recessive mental retardation has been attributed to the deletion or mutation of a gene named tumor suppressor candidate 3 (TUSC3). Previous research has identified that TUSC3 is a potential tumor suppressor gene in oral epidermoid carcinoma, lung cancer and esophageal cancer. However, to the best of our knowledge, no previously published data has existed on the expression of TUSC3 in gliomas. The present study focused on the expression of TUSC3 in brain gliomas. Additionally, the present study sought to identify he association between TUSC3 expression and the typical clinical and pathological disease manifestations of gliomas...
April 2018: Oncology Letters
https://www.readbyqxmd.com/read/29532523/clinicopathological-and-genetic-association-between-epithelioid-glioblastoma-and-pleomorphic-xanthoastrocytoma
#15
Takuya Furuta, Hiroaki Miyoshi, Satoru Komaki, Fumiko Arakawa, Motohiro Morioka, Koichi Ohshima, Mitsutoshi Nakada, Yasuo Sugita
Epithelioid glioblastoma (eGBM) is a rare variant of GBM which was adopted in the 2016 WHO classification. eGBM and pleomorphic xanthoastrocytoma (PXA) sometimes show overlapping features histologically and genetically, such as epithelioid pattern and a highly frequent V600E mutation in the gene for vRAF murine sarcoma viral oncogene homolog B1 (BRAF), respectively. Accurate diagnosis of these rare tumors is challenging according to the new criteria in the revised 2016 WHO classification. It is an urgent task to elucidate the biological properties of the tumors and to select appropriate treatment...
March 13, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29531774/a-novel-pgap3-mutation-in-a-croatian-boy-with-brachytelephalangy-and-a-thin-corpus-callosum
#16
Tomohiro Sakaguchi, Tamara Žigman, Danijela Petković Ramadža, Lana Omerza, Silvija Pušeljić, Zrinka Ereš Hrvaćanin, Noriko Miyake, Naomichi Matsumoto, Ivo Barić
Biallelic mutations in the post-GPI attachment to proteins 3 ( PGAP3 ) gene cause hyperphosphatasia with mental retardation syndrome 4 (HPMRS4), which is characterized by elevated serum alkaline phosphatase, severe psychomotor developmental delay, seizures, and facial dysmorphism. To date, 15 PGAP3 mutations have been reported in humans. Here we report a novel homozygous PGAP3 mutation (c.314C>A, p.Pro105Gln) in a Croatian patient and fully describe the clinical features.
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29531481/further-delineation-of-the-clinical-phenotype-of-cerebellar-ataxia-mental-retardation-and-disequilibrium-syndrome-type-4
#17
Saud Alsahli, Muhammad Talal Alrifai, Saeed Al Tala, Fuad Al Mutairi, Majid Alfadhel
Background: Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) is a heterogeneous group of genetic disorders that have been grouped by shared clinical features; all of these features are transmitted via an autosomal recessive mechanism. Four variants of this syndrome have been identified so far, and each one differs in terms of both clinical and genotypical features. CAMRQ4 is a rare genetic disorder characterized by mental retardation, ataxia or an inability to walk, dysarthria and, in some patients, quadrupedal gait...
2018: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/29530121/-glucose-transporter-1-deficiency-syndrome-features-of-movement-disorders-diagnosis-and-treatment
#18
Xin-Na Ji, Cui-Juan Xu, Zhi-Jie Gao, Shu-Hua Chen, Ke-Ming Xu, Qian Chen
OBJECTIVE: To investigate the clinical features, diagnosis and treatment of glucose transporter 1 deficiency syndrome (GLUT1-DS), as well as the diagnostic value of movement disorders. METHODS: The clinical data of four children with GLUT1-DS were collected, and their clinical features, treatment, and follow-up results were analyzed. RESULTS: There were two boys and two girls, with an age of onset of 2-15 months. Clinical manifestations included movement disorders, seizures, and developmental retardation...
March 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29518833/-clinical-and-genetic-characteristics-of-congenital-myasthenia-syndrome-with-episodic-apnea-caused-by-chat-gene-mutation-a-report-of-2-cases
#19
Z M Liu, F Fang, C H Ding, W H Zhang, J Deng, C H Chen, X Wang, J Liu, Z Li, X L Jia, J S Zeng, S Y Qian
Objective: To investigate the clinical and genetic features of congenital myasthenia syndrome with episodic apnea (CMS-EA) caused by gene mutation of choline acetyltransferase (CHAT) Methods: The clinical data of 2 patients with congenital myasthenia syndrome were collected, and both were diagnosed from 2013 to 2015 in Beijing Children's Hospital, Capital Medical University. The clinical features and gene mutation characteristics were analyzed, and the patients were followed-up for therapeutic efficacy. Results: The two patients (case 1 and case 2) had the onset soon after birth and at 3 months after birth respectively...
March 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29499646/what-to-consider-when-pseudohypoparathyroidism-is-ruled-out-ippsd-and-differential-diagnosis
#20
Arrate Pereda, Intza Garin, Guiomar Perez de Nanclares
BACKGROUND: Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright's hereditary osteodystrophy (AHO) phenotype, which is characterized by small stature, obesity with a rounded face, subcutaneous ossifications, mental retardation and brachydactyly, its manifestations are somewhat variable. Indeed, some of them present with a complete phenotype, whereas others show only subtle manifestations...
March 2, 2018: BMC Medical Genetics
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