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Wyszukujesz frazę ""Codon, Nonsense genetics"" wg kryterium: Temat


Wyświetlanie 1-9 z 9
Tytuł :
Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation
Autorzy :
Rossing, Maria
Albrechtsen, Anders
Skytte, Anne-Bine
Jensen, Uffe B
Ousager, Lilian B
Gerdes, Anne-Marie
Nielsen, Finn C
Hansen, Thomas vO
Pokaż więcej
Temat :
CANCER
CLINICAL-FEATURES
FAMILIES
FIBROFOLLICULOMAS
HOGG-DUBE-SYNDROME
IDENTIFICATION
INTRAGENIC DELETIONS
SPLICING SIGNALS
SPONTANEOUS PNEUMOTHORAX
TUMORS
Amino Acid Sequence
Genetic Predisposition to Disease
Genetic Testing
Frameshift Mutation/genetics
Proto-Oncogene Proteins/genetics
Birt-Hogg-Dube Syndrome/genetics
Humans
Lung Diseases/genetics
Polymorphism, Genetic/genetics
Tumor Suppressor Proteins/genetics
Codon, Nonsense/genetics
Denmark
RNA Splicing/genetics
Źródło :
Rossing, M, Albrechtsen, A, Skytte, A-B, Jensen, U B, Ousager, L B, Gerdes, A-M, Nielsen, F C & Hansen, T VO 2017, ' Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation ', Journal of Human Genetics, vol. 62, no. 2, 62, pp. 151-157 . https://doi.org/10.1038/jhg.2016.118
Tytuł :
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
Autorzy :
Kazmi, Syed Ali Raza
Kremer, Hannie
Siddiqi, Saima
Zazo Seco, Celia
Castells-Nobau, Anna
Joo, Seol-hee
Schraders, Margit
Foo, Jia Nee
van der Voet, Monique
Velan, S. Sendhil
Nijhof, Bonnie
Oostrik, Jaap
de Vrieze, Erik
Katana, Radoslaw
Mansoor, Atika
Huynen, Martijn
Szklarczyk, Radek
Oti, Martin
Tranebjærg, Lisbeth
van Wijk, Erwin
Scheffer-de Gooyert, Jolanda M.
Siddique, Saadat
Baets, Jonathan
de Jonghe, Peter
Sadananthan, Suresh Anand
van de Warrenburg, Bart P.
Khor, Chiea Chuen
Göpfert, Martin C.
Qamar, Raheel
Schenck, Annette
Pokaż więcej
Temat :
RB1-214
Mutation/genetics
Optic Atrophy/blood
Hearing impairment
Drosophila melanogaster/genetics
Lipid Droplets/metabolism
Young Adult
GENE-EXPRESSION
Deaf-Blind Disorders/blood
Research Support, Non-U.S. Gov't
Animals
HEK293 Cells
Base Sequence
Female
Drosophila Proteins/genetics
Biology
MORPHOLOGY
TRANSMEMBRANE PROTEIN-2
Whole Exome Sequencing
Motor Activity
Gene Expression Regulation
Disease Models, Animal
METABOLISM
Male
Child
FAT STORAGE
Motor development
Adiposity
Pathology
Research Article
Locomotion
Codon, Nonsense/genetics
Sensory Receptor Cells/pathology
Lipid droplets
Ichthyosis/complications
Audiometry, Pure-Tone
Dros
LIPID DROPLET
DISEASE
Hearing Loss/genetics
Medicine
Pedigree
Gene Knockdown Techniques
Liver/metabolism
CELLS
DROSOPHILA
Dystonia
FITM2
Drosophila
Intellectual Disability/blood
ENDOPLASMIC-RETICULUM STRESS
Dystonia/blood
Journal Article
Humans
Membrane Proteins/genetics
Human medicine
Homozygote
Źródło :
Disease Models & Mechanisms
Disease Models & Mechanisms, 10(2), 105 - 118. Company of Biologists Ltd
Disease Models & Mechanisms, 10, 105 - 118
Disease Models & Mechanisms, Vol 10, Iss 2, Pp 105-118 (2017)
Zazo Seco, C, Castells-Nobau, A, Joo, S-H, Schraders, M, Foo, J N, van der Voet, M, Velan, S S, Nijhof, B, Oostrik, J, de Vrieze, E, Katana, R, Mansoor, A, Huynen, M, Szklarczyk, R, Oti, M, Tranebjærg, L, van Wijk, E, Scheffer-de Gooyert, J M, Siddique, S, Baets, J, de Jonghe, P, Kazmi, S A R, Sadananthan, S A, van de Warrenburg, B P, Khor, C C, Göpfert, M C, Qamar, R, Schenck, A, Kremer, H & Siddiqi, S 2017, ' A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy ', Disease models & mechanisms, vol. 10, pp. 105-118 . https://doi.org/10.1242/dmm.026476
Opis pliku :
application/pdf; pdf
Tytuł :
Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation
Autorzy :
Rossing, Maria
Albrechtsen, Anders
Skytte, Anne-Bine
Jensen, Uffe B
Ousager, Lilian Bomme
Gerdes, Anne-Marie
Nielsen, Finn C
Hansen, Thomas vO
Pokaż więcej
Temat :
Amino Acid Sequence
Birt-Hogg-Dube Syndrome/genetics
Codon, Nonsense/genetics
Denmark
Frameshift Mutation/genetics
Genetic Predisposition to Disease
Genetic Testing
Humans
Lung Diseases/genetics
Polymorphism, Genetic/genetics
Proto-Oncogene Proteins/genetics
RNA Splicing/genetics
Tumor Suppressor Proteins/genetics
Źródło :
Rossing, M, Albrechtsen, A, Skytte, A-B, Jensen, U B, Ousager, L B, Gerdes, A-M, Nielsen, F C & Hansen, T VO 2017, ' Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation ', Journal of Human Genetics, vol. 62, no. 2, pp. 151–157 . https://doi.org/10.1038/jhg.2016.118
Tytuł :
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
Autorzy :
Savige, Judith
Storey, Helen
Il Cheong, Hae
Gyung Kang, Hee
Park, Eujin
Hilbert, Pascale
Persikov, Anton
Torres-Fernandez, Carmen
Ars, Elisabet
Torra, Roser
Hertz, Jens Michael
Thomassen, Mads
Shagam, Lev
Wang, Dongmao
Wang, Yanyan
Flinter, Frances
Nagel, Mato
Pokaż więcej
Temat :
Mutation, Missense/genetics
Research Article
Basement Membrane
Genetics & genetic processes [Life sciences]
Nephritis, Hereditary/genetics/pathology
Young Adult
Mutation Databases
Genetic Association Studies/statistics & numerical data
Otology
Codon, Nonsense/genetics
Gene Deletion
Nephrology
Genetics
Alternative Splicing/genetics
Hearing Disorders
Deafness
Female
Database and Informatics Methods
Nonsense Mutation
Biology and Life Sciences
Biological Databases
urologic and male genital diseases
Research and Analysis Methods
Deletion Mutation
Medicine
Autoantigens/genetics
Génétique & processus génétiques [Sciences du vivant]
Mutation
Insertion Mutation
Substitution Mutation
Cell Biology
Cellular Structures and Organelles
Science
Renal Failure
Journal Article
Medicine and Health Sciences
Adult
Humans
Otorhinolaryngology
Extracellular Matrix
Collagen Type IV/genetics
Male
Age of Onset
Źródło :
Savige, J, Storey, H, Il Cheong, H, Gyung Kang, H, Park, E, Hilbert, P, Persikov, A, Torres-Fernandez, C, Ars, E, Torra, R, Hertz, J M, Thomassen, M, Shagam, L, Wang, D, Wang, Y, Flinter, F & Nagel, M 2016, ' X-Linked and Autosomal Recessive Alport Syndrome : Pathogenic Variant Features and Further Genotype-Phenotype Correlations ', P L o S One, vol. 11, no. 9, e0161802 . https://doi.org/10.1371/journal.pone.0161802
PLoS ONE, Vol 11, Iss 9, p e0161802 (2016)
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations. PLoS ONE, 11(9), 0161802., United States. (2016).
Opis pliku :
application/pdf
Tytuł :
Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia.
Autorzy :
Ben Brick , Ahlem Sabrine
Laroussi , Nadia
Mesrati , Hela
Kefi , Rym
Bchetnia , Mbarka
Lasram , Khaled
Ben Halim , Nizar
Romdhane , Lilia
Ouragini , Houyem
Marrakchi , Salaheddine
Boubaker , Mohamed Samir
Meddeb Cherif , Mounira
Castiglia , D.
Hovnanian , Alain
Abdelhak , Sonia
Turki , Hamida
Pokaż więcej
Temat :
MESH: Alleles
MESH: Male
MESH : Alleles
MESH: Codon, Nonsense/genetics
MESH : Male
MESH: Tunisia
MESH : Pedigree
[ SDV.GEN.GPO ] Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE]
MESH : Tunisia
MESH : DNA Mutational Analysis
MESH: DNA Mutational Analysis
Novel mutations
MESH : Carcinoma, Squamous Cell/complications
MESH : Female
MESH: Founder Effect
COL7A1
MESH : Epidermolysis Bullosa Dystrophica/pathology
MESH : Skin/pathology
MESH: Female
MESH : Codon, Nonsense/genetics
[ SDV.MHEP.DERM ] Life Sciences [q-bio]/Human health and pathology/Dermatology
MESH: Epidermolysis Bullosa Dystrophica/genetics
MESH: Mutation
MESH : Epidermolysis Bullosa Dystrophica/genetics
[SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology
MESH : Founder Effect
MESH: Epidermolysis Bullosa Dystrophica/pathology
[ SDV ] Life Sciences [q-bio]
MESH: Carcinoma, Squamous Cell/complications
MESH: Skin/pathology
Founder effect
MESH: Pedigree
MESH: Genes, Recessive
MESH: Consanguinity
MESH: Humans
MESH: Collagen Type VII/genetics
MESH : Collagen Type VII/genetics
[SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE]
Recessive dystrophic epidermolysis bullosa severe generalized
MESH : Mutation
MESH : Haplotypes
MESH : Humans
MESH : Consanguinity
[SDV]Life Sciences [q-bio]
MESH : Genes, Recessive
MESH: Haplotypes
Źródło :
Archives of Dermatological Research, Springer Verlag, 2014, 306 (4), pp.405-11. ⟨10.1007/s00403-013-1421-y⟩
Archives of Dermatological Research
Archives of Dermatological Research, Springer Verlag, 2014, 306 (4), pp.405-11. 〈10.1007/s00403-013-1421-y〉
    Wyświetlanie 1-9 z 9

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