يعرض 1 - 20 نتائج من 127 نتيجة بحث عن '"HUMAN missense mutation"', وقت الاستعلام: 0.62s تنقيح النتائج
  1. 1
    Academic Journal
    A Novel PAX6 Heterozygous Mutation Found in a Chinese Family with Congenital Aniridia.

    المؤلفون: Xiao, Ying1 (AUTHOR), Liu, Xiangqin2,3 (AUTHOR), Yang, Chen2 (AUTHOR), Liu, Liping1 (AUTHOR), Guo, Xiaoxin2 (AUTHOR), Wang, Qi1 (AUTHOR) drwangqi@hotmail.com, Gong, Bo2,3 (AUTHOR) gongbo2007@hotmail.com

    المصدر: Genetic Testing & Molecular Biomarkers. Jul2019, Vol. 23 Issue 7, p495-500. 6p.

    مصطلحات موضوعية: *ANIRIDIA, *HUMAN missense mutation, *ARGININE, *GLUTAMINE, *GENETIC carriers, *NUCLEOTIDE sequencing, *POLYMERASE chain reaction, *FAMILIES


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  2. 2
    Academic Journal
    A de novo missense mutation in the NC1 domain of type VII collagen leads to dystrophic epidermolysis bullosa.

    المؤلفون: Ping Cheng, Yingda Wu, Wanlu Zhang, Yuanyuan Zhang, Weixue Jia, Chengrang Li

    المصدر: Advances in Dermatology & Allergology / Postępy Dermatologii i Alergologii; 2022, Vol. 39 Issue 3, p623-626, 4p

    مصطلحات موضوعية: EPIDERMOLYSIS bullosa, MISSENSE mutation, SKIN diseases, HUMAN missense mutation, PHENOTYPES

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  3. 3
    Academic Journal
    Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome.

    المؤلفون: Peng, Yunhui1 yunhuip@g.clemson.edu, Myers, Rebecca2 rlmyers@g.clemson.edu, Zhang, Wenxing3 wenxinz@g.clemson.edu, Alexov, Emil1 ealexov@clemson.edu

    المصدر: International Journal of Molecular Sciences. Jan2018, Vol. 19 Issue 1, p141. 15p. 2 Diagrams, 2 Charts, 3 Graphs.

    مصطلحات موضوعية: *SMITH-Lemli-Opitz syndrome, *HUMAN missense mutation, *MISSENSE mutation, *DEVELOPMENTAL disabilities, *CHOLESTEROL, *CHEMICAL synthesis, *MEMBRANE proteins

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  4. 4
    Academic Journal
    Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.

    المؤلفون: Nguyen, Khue Vu1,2 (AUTHOR) kvn006@ucsd.edu, Naviaux, Robert K.1,2,3 (AUTHOR), Nyhan, William L.2 (AUTHOR)

    المصدر: Nucleosides, Nucleotides & Nucleic Acids. 2017, Vol. 36 Issue 11, p704-711. 8p.

    مصطلحات موضوعية: *HUMAN missense mutation, *LESCH-Nyhan syndrome, *EPISTASIS (Genetics), *AMYLOID beta-protein precursor, *EPIGENETICS, *MOLECULAR diagnosis


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  5. 5
    Academic Journal
    Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.

    المؤلفون: Arnadottir, Gudny A.1, Jensson, Brynjar O.1, Marelsson, Sigurdur E.2, Sulem, Gerald1, Oddsson, Asmundur1, Kristjansson, Ragnar P.1, Benonisdottir, Stefania1, Gudjonsson, Sigurjon A.1, Masson, Gisli1, Thorisson, Gudmundur A.1, Saemundsdottir, Jona1, Magnusson, Olafur Th.1, Jonasdottir, Adalbjorg1, Jonasdottir, Aslaug1, Sigurdsson, Asgeir1, Gudbjartsson, Daniel F.1,3, Thorsteinsdottir, Unnur1,4, Arngrimsson, Reynir5, Sulem, Patrick1 patrick.sulem@decode.is, Stefansson, Kari1,4

    المصدر: BMC Medical Genetics. 10/2/2017, Vol. 18, p1-5. 5p.

    مصطلحات موضوعية: *HUMAN missense mutation, *CHILDHOOD epilepsy, *EXONS (Genetics), *NUCLEOTIDE sequencing, *HUMAN genome

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  6. 6
    Academic Journal
    Acral peeling skin syndrome resulting from mutations in TGM5.

    المؤلفون: Cañueto, J.1,2,3, Bueno, E.1,2, Rodríguez ‐ Diaz, E.4, Vicente ‐ Díaz, M.A.5, Álvarez ‐ Cuesta, C.C.6, Gonzalvo ‐ Rodríguez, P.6, González ‐ Sarmiento, R.1,2

    المصدر: Journal of the European Academy of Dermatology & Venereology. Mar2016, Vol. 30 Issue 3, p477-480. 4p.

    مصطلحات موضوعية: *SKIN disease genetics, *HUMAN missense mutation, *SKIN biopsy, *PEDIATRIC dermatology, *SYNDROMES in children


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  7. 7
    Academic Journal
    Comparison of predicted and actual consequences of missense mutations.

    المؤلفون: Miosge, Lisa A.1, Field, Matthew A.1, Sontani, Yovina1, Cho, Vicky1,2, Johnson, Simon1,2, Palkova, Anna1,2, Balakishnan, Bhavani2, Liang, Rong2, Yafei Zhang2, Lyon, Stephen3, Beutler, Bruce3, Whittle, Belinda2, Bertram, Edward M.2, Enders, Anselm4, Goodnow, Christopher C.1,5 c.goodnow@garvan.org.au, Daniel Andrews, T.1 dan.andrews@anu.edu.au

    المصدر: Proceedings of the National Academy of Sciences of the United States of America. 9/15/2015, Vol. 112 Issue 37, pE5189-E5198. 10p.

    مصطلحات موضوعية: *HUMAN missense mutation, *HUMAN genetic variation, *GENETIC polymorphisms, *AMINO acid analysis, *PHENOTYPES

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  8. 8
    Academic Journal
    Quantification of mutant E-cadherin using bioimaging analysis of in situ fluorescence microscopy. A new approach to CDH1 missense variants.

    المؤلفون: Sanches, João Miguel1, Figueiredo, Joana2, Fonseca, Martina1, Durães, Cecília2, Melo, Soraia2, Esménio, Sofia1, Seruca, Raquel3

    المصدر: European Journal of Human Genetics. Aug2015, Vol. 23 Issue 8, p1072-1079. 8p.

    مصطلحات موضوعية: *HUMAN missense mutation, *BIO-imaging sensors, *FLUORESCENT antigen technique, *DESMOGLEINS, *MUTANT proteins

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  9. 9
    Academic Journal
    X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene.

    المؤلفون: D’Arcy, Colleen1,2 coll.darcy@gmail.com, Kanellakis, Voula3, Forbes, Robin4, Wilding, Brendan5, McGrath, Meagan5, Howell, Katherine6, Ryan, Monique6, McLean, Catriona1,2

    المصدر: Journal of Child Neurology. Aug2015, Vol. 30 Issue 9, p1211-1217. 7p.

    مصطلحات موضوعية: *HYPERTROPHIC cardiomyopathy, *HUMAN missense mutation, *MUSCULAR dystrophy, *NEUROMUSCULAR diseases in children, *PEDIATRIC neurology, *DIAGNOSIS


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  10. 10
    Academic Journal
    Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.

    المؤلفون: Ruggieri, Alessandra1,2, Brancati, Francesco3,4, Zanotti, Simona1, Maggi, Lorenzo1, Pasanisi, Maria Barbara1, Saredi, Simona1, Terracciano, Chiara5, Antozzi, Carlo1, D'Apice, Maria Rosaria3,6, Sangiuolo, Federica3,6, Novelli, Giuseppe3,6, Marshall, Christian R.2, Scherer, Stephen W.2,7, Morandi, Lucia1, Federici, Luca4, Massa, Roberto5, Mora, Marina1 marina.mora@istituto-besta.it, Minassian, Berge A.2,8 berge.minassian@sickkids.ca

    المصدر: Acta Neuropathologica Communications. Jul2015, Vol. 3 Issue 1, p1-14. 14p.

    مصطلحات موضوعية: *HUMAN missense mutation, *CELL aggregation, *CARRIER proteins, *GENE expression, *NEUROLOGICAL disorders -- Genetic aspects, MUSCULAR dystrophy genetics

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  11. 11
    Academic Journal
    De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females.

    المؤلفون: Popp, Bernt1, Støve, Svein I2, Endele, Sabine1, Myklebust, Line M3, Hoyer, Juliane1, Sticht, Heinrich4, Azzarello-Burri, Silvia5, Rauch, Anita5, Arnesen, Thomas2, Reis, André1

    المصدر: European Journal of Human Genetics. May2015, Vol. 23 Issue 5, p602-609. 8p.

    مصطلحات موضوعية: *HUMAN missense mutation, *DEVELOPMENTAL delay, *ACETYLTRANSFERASES, *X-linked intellectual disabilities, *HUMAN genetic variation, *MUSCLE dysmorphia, *GENETICS

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  12. 12
    Academic Journal
    Novel mutation 928 G> C of MEN1 gene in a familial multiple endocrine neoplasia type 1 case ( MEN1) with co-existence of insulinoma and glucagonoma1名同时合并胰岛素瘤与胰高血糖素瘤的家族性多发性内分泌腺瘤1型（MEN1）患者的 MEN1基因出现了新的928G>C突变

    المؤلفون: Chen, Xiang1, Sun, Shuyao2, Wang, Chun2, Chen, Dawei2, Chen, Huijiao3, Ran, Xingwu2

    المصدر: Journal of Diabetes. May2015, Vol. 7 Issue 3, p426-429. 4p.

    مصطلحات موضوعية: *HUMAN missense mutation, *GENETIC mutation, *INSULINOMA, *GLUCAGONOMA, *TUMOR suppressor genes, *METASTASIS


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  13. 13
    Academic Journal
    Computational study of missense mutations in phenylalanine hydroxylase.

    المؤلفون: Réblová, Kamila1 kristina@physics.muni.cz, Kulhánek, Petr, Fajkusová, Lenka1

    المصدر: Journal of Molecular Modeling. Apr2015, Vol. 21 Issue 4, p1-10. 10p.

    مصطلحات موضوعية: *HUMAN missense mutation, *PHENYLALANINE hydroxylase, *COMPUTER simulation, *AMINO acid metabolism disorders, *PHENYLKETONURIA, *GENETICS


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  14. 14
    Academic Journal
    A novel missense mutation in collagenous domain of EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia.

    المؤلفون: DAXU LI1, RAN XU1, FUMENG HUANG2,3, BIYUAN WANG2, YU TAO2, ZIJIAN JIANG2, HAIRUI LI2, JIANFENG YAO4, PENG XU4, XIAOKANG WU5, LE REN1, RUI ZHANG2,4 zhangrui.paper@gmail.com, KELSOE, JOHN R.3, JIE MA3 majie.paper@gmail.com

    المصدر: Journal of Genetics. Mar2015, Vol. 94 Issue 1, p115-119. 5p.

    مصطلحات موضوعية: *HUMAN missense mutation, *ECTODERMAL dysplasia, *GENES, *PROLINE, *LEUCINE

    مصطلحات جغرافية: CHINA

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  15. 15
    Academic Journal
    Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations.

    المؤلفون: Floris, Gianluca1 lgr.floris@tiscali.it, Borghero, Giuseppe1, Cannas, Antonino1, Di Stefano, Francesca1, Murru, Maria2, Corongiu, Daniela2, Cuccu, Stefania2, Tranquilli, Stefania2, Cherchi, Maria3, Serra, Alessandra4, Loi, Gianluigi4, Marrosu, Maria2, Chiò, Adriano5, Marrosu, Francesco1

    المصدر: Journal of Neurology. Feb2015, Vol. 262 Issue 2, p375-384. 10p. 1 Color Photograph, 1 Black and White Photograph, 3 Charts, 1 Graph.

    مصطلحات موضوعية: *DEMENTIA, *HUMAN missense mutation, *HUMAN phenotype, *NEUROPSYCHOLOGY research, *DIFFERENTIAL diagnosis, *GENETICS


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  16. 16
    Academic Journal
    A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

    المؤلفون: Agha, Zehra1,2, Iqbal, Zafar2, Azam, Maleeha1, Siddique, Maimoona3, Willemsen, Marjolein H.2, Kleefstra, Tjitske2, Zweier, Christiane4, de Leeuw, Nicole2, Qamar, Raheel1,5, van Bokhoven, Hans2,6 Hans.vanbokhoven@radboudumc.nl

    المصدر: Gene. Mar2014, Vol. 538 Issue 1, p30-35. 6p.

    مصطلحات موضوعية: *MICROCEPHALY, *HUMAN missense mutation, *DELETION mutation, *NEUREXINS, *PAKISTANIS, *CRANIOFACIAL abnormalities, *NUCLEOTIDE sequence, *DISEASES


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  17. 17
    Academic Journal
    Two novel missense mutations in iron transport protein transferrin causing hypochromic microcytic anaemia and haemosiderosis: molecular characterization and structural implications.

    المؤلفون: Athiyarath, Rekha1, Arora, Neeraj1, Fuster, Francisco2, Schwarzenbacher, Robert3, Ahmed, Rayaz1, George, Biju1, Chandy, Mammen4, Srivastava, Alok1, Rojas, Ana M.3,5, Sanchez, Mayka2, Edison, Eunice S.1 eunice@cmcvellore.ac.in

    المصدر: British Journal of Haematology. Nov2013, Vol. 163 Issue 3, p404-407. 4p.

    مصطلحات موضوعية: *HUMAN missense mutation, *MISSENSE mutation, *TRANSFERRIN, *GENETIC mutation, *EXONS (Genetics)


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  18. 18
    Academic Journal
    Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.

    المؤلفون: Ben-Shachar, Shay1, Constantini, Shlomi1, Hallevi, Hen2, Sach, Emma K3, Upadhyaya, Meena4, Evans, Gareth D3, Huson, Susan M3

    المصدر: European Journal of Human Genetics. May2013, Vol. 21 Issue 5, p535-539. 5p. 4 Charts, 2 Graphs.

    مصطلحات موضوعية: *HUMAN missense mutation, *GENETIC mutation, *PULMONARY stenosis, *GENOTYPE-environment interaction, *PHENOTYPES, *STATISTICAL correlation

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  19. 19
    Academic Journal
    Functional characterization of 3D protein structures informed by human genetic diversity.

    المؤلفون: Hicks, Michael, Bartha, Istvan, di Iulio, Julia, Venter, J. Craig, Telenti, Amalio

    المصدر: Proceedings of the National Academy of Sciences of the United States of America; 4/30/2019, Vol. 116 Issue 18, p8960-8965, 6p

    مصطلحات موضوعية: PROTEIN structure, PROTEOMICS, HUMAN genetics, MISSENSE mutation, HUMAN missense mutation

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  20. 20
    Academic Journal
    Genetic study in a suspected case of Schöpf-Schulz-Passarge syndrome.

    المؤلفون: Vilas-Sueiro, Alejandro1 avilassueiro@gmail.com, Monteagudo, Benigno1, González-Vilas, Daniel1, Varela-Veiga, Ana1, De las Heras, Cristina1

    المصدر: Indian Journal of Dermatology, Venereology & Leprology. Jul/Aug2015, Vol. 81 Issue 4, p408-410. 3p.

    مصطلحات موضوعية: *HUMAN missense mutation, *PTERYGIUM, *PALMOPLANTAR keratoderma, *CYSTS (Pathology), EYELID abnormalities

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