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Tytuł:
Acellular Fish Skin Grafts for Management of Split Thickness Donor Sites and Partial Thickness Burns: A Case Series.
Autorzy:
Alam K; North Middlesex University Hospital, Sterling Way, London, UK.
Jeffery SLA; The Royal Centre for Defence Medicine, The Queen Elizabeth Hospital, Mindelsohn Way, Edgbaston, Birmingham, UK.; Birmingham City University, Westbourne Road, Birmingham, UK.
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Źródło:
Military medicine [Mil Med] 2019 Mar 01; Vol. 184 (Suppl 1), pp. 16-20.
Typ publikacji:
Journal Article
MeSH Terms:
RNA Splice Sites*
Burns/*surgery
Fish Products/*standards
Skin Transplantation/*instrumentation
Skin Transplantation/*methods
Adult ; Aged ; Aged, 80 and over ; Animals ; Bandages/standards ; Female ; Fishes ; Humans ; Male ; Middle Aged ; Wound Healing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
CASH: a constructing comprehensive splice site method for detecting alternative splicing events.
Autorzy:
Wu W; The State Key Laboratory of Subtropical Silviculture, Zhejiang A & F University, Lin'an, Hangzhou, China.
Zong J; Novel Bioinformatics Co., Ltd, Shanghai, China.
Wei N; Institute for Nutritional Sciences, Chinese Academy of Sciences (CAS), Shanghai, China.
Cheng J; Tianjin Institute of Industrial Biotechnology, Chinese Academy of Sciences (CAS), Shanghai, China.
Zhou X; Tianjin Medical University General Hospital, China.
Cheng Y; Institute for Nutritional Sciences, Chinese Academy of Sciences (CAS), Shanghai, China.
Chen D; Novel Bioinformatics Co., Ltd, Shanghai, China.
Guo Q; Novel Bioinformatics Co., Ltd, Shanghai, China.
Zhang B; Novel Bioinformatics Co., Ltd, Shanghai, China.
Feng Y; Institute for Nutritional Sciences, Chinese Academy of Sciences (CAS), Shanghai, China.
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Źródło:
Briefings in bioinformatics [Brief Bioinform] 2018 Sep 28; Vol. 19 (5), pp. 905-917.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Alternative Splicing*
RNA Splice Sites*
Animals ; Cell Cycle Proteins/genetics ; Cell Cycle Proteins/metabolism ; Chickens ; Computational Biology/methods ; Computer Simulation ; Exons ; High-Throughput Nucleotide Sequencing/methods ; High-Throughput Nucleotide Sequencing/statistics & numerical data ; Humans ; Mice ; Models, Genetic ; Repressor Proteins/genetics ; Repressor Proteins/metabolism ; Sequence Analysis, RNA/methods ; Sequence Analysis, RNA/statistics & numerical data ; Serine-Arginine Splicing Factors/genetics ; Serine-Arginine Splicing Factors/metabolism ; Software
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
N-Ethyl-N-Nitrosourea (ENU) Mutagenesis Reveals an Intronic Residue Critical for Caenorhabditis elegans 3' Splice Site Function in Vivo.
Autorzy:
Itani OA; Institute of Gerontology and Departments of Internal Medicine and Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan 48109.
Flibotte S; Department of Zoology, University of British Columbia, Vancouver, British Columbia V6T 123, Canada.
Dumas KJ; Institute of Gerontology and Departments of Internal Medicine and Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan 48109.
Guo C; Institute of Gerontology and Departments of Internal Medicine and Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan 48109.
Blumenthal T; Department of Molecular, Cellular, and Developmental Biology, University of Colorado, Boulder, Colorado 80309.
Hu PJ; Institute of Gerontology and Departments of Internal Medicine and Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan 48109 .
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Źródło:
G3 (Bethesda, Md.) [G3 (Bethesda)] 2016 Jun 01; Vol. 6 (6), pp. 1751-6. Date of Electronic Publication: 2016 Jun 01.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Introns*
RNA Splice Sites*
Caenorhabditis elegans/*drug effects
Caenorhabditis elegans/*genetics
Ethylnitrosourea/*toxicity
Mutagenesis/*drug effects
Animals ; Base Sequence ; Caenorhabditis elegans/metabolism ; Chromosome Mapping ; Mutation ; Nucleotide Motifs ; Phenotype ; Polymorphism, Single Nucleotide ; Protein Binding ; RNA Splicing Factors/metabolism ; Sequence Deletion
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
ERISdb: a database of plant splice sites and splicing signals.
Autorzy:
Szcześniak MW; Laboratory of Bioinformatics, Faculty of Biology, Adam Mickiewicz University, Poznan, Poland. />Kabza M
Pokrzywa R
Gudyś A
Makałowska I
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Źródło:
Plant & cell physiology [Plant Cell Physiol] 2013 Feb; Vol. 54 (2), pp. e10. Date of Electronic Publication: 2013 Jan 07.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Databases, Genetic*
Genes, Plant*
RNA Splice Sites*
Software*
RNA, Plant/*genetics
Algorithms ; Expressed Sequence Tags ; Internet ; Introns ; MicroRNAs/genetics ; Plants/genetics ; RNA Splicing ; Regulatory Sequences, Ribonucleic Acid ; Search Engine ; Sequence Analysis, RNA ; Signal Transduction
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Efficient and accurate detection of splice junctions from RNA-seq with Portcullis.
Autorzy:
Mapleson D; Earlham Institute, Norwich Research Park, NR47UZ, Norwich, United Kingdom.
Venturini L; Earlham Institute, Norwich Research Park, NR47UZ, Norwich, United Kingdom.
Kaithakottil G; Earlham Institute, Norwich Research Park, NR47UZ, Norwich, United Kingdom.
Swarbreck D; Earlham Institute, Norwich Research Park, NR47UZ, Norwich, United Kingdom.
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Źródło:
GigaScience [Gigascience] 2018 Dec 01; Vol. 7 (12). Date of Electronic Publication: 2018 Dec 01.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
RNA Splicing*
Software*
RNA/*metabolism
Animals ; Arabidopsis/genetics ; Databases, Genetic ; Drosophila/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; RNA/chemistry ; RNA Splice Sites/genetics ; Sequence Analysis, RNA
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots.
Autorzy:
Uddin M; Mohammed Bin Rashid University of Medicine and Health Sciences, College of Medicine, 505055 Dubai, United Arab Emirates 505055, .; The Centre for Applied Genomics.
Woodbury-Smith M; The Centre for Applied Genomics.; Institute of Neuroscience NE2 4HH is the postal code, Newcastle University, Newcastle upon Tyne, United Kingdom.
Chan AJS; The Centre for Applied Genomics.; Program in Genetics and Genome Biology.; Department of Molecular Genetics and.
Albanna A; Mohammed Bin Rashid University of Medicine and Health Sciences, College of Medicine, 505055 Dubai, United Arab Emirates 505055.; Division of Neurology, BC Children's Hospital, Vancouver, BC, Canada V6H 3N1, and.
Minassian B; Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates PO Box: 76662.
Boelman C; Division of Neurology, and.
Scherer SW; The Centre for Applied Genomics, .; Program in Genetics and Genome Biology.; Department of Molecular Genetics and.; McLaughlin Centre, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8.
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Źródło:
G3 (Bethesda, Md.) [G3 (Bethesda)] 2018 Mar 28; Vol. 8 (4), pp. 1115-1118. Date of Electronic Publication: 2018 Mar 28.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genome, Human*
Munc18 Proteins/*genetics
Mutation/*genetics
Nucleotide Motifs/*genetics
RNA Splice Sites/*genetics
Base Sequence ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Noncanonical GA and GG 5' Intron Donor Splice Sites Are Common in the Copepod Eurytemora affinis .
Autorzy:
Robertson HM; Department of Entomology, University of Illinois at Urbana-Champaign, Urbana, Illinois 61801 .
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Źródło:
G3 (Bethesda, Md.) [G3 (Bethesda)] 2017 Dec 04; Vol. 7 (12), pp. 3967-3969. Date of Electronic Publication: 2017 Dec 04.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Evolution, Molecular*
Phylogeny*
RNA Splice Sites/*genetics
RNA Splicing/*genetics
Animals ; Base Sequence ; Conserved Sequence/genetics ; Copepoda/genetics ; Exons/genetics ; Genome ; Introns/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A novel splice site mutation in the ADAR gene leading to exon skipping and dyschromatosis symmetrica hereditaria in a Japanese patient.
Autorzy:
Ansai O; Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Niigata, 951-8510, Japan.
Shigehara Y; Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Niigata, 951-8510, Japan.
Ito A; Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Niigata, 951-8510, Japan.
Abe R; Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Niigata, 951-8510, Japan.
Shimomura Y; Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Niigata, 951-8510, Japan.
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Źródło:
Clinical and experimental dermatology [Clin Exp Dermatol] 2016 Dec; Vol. 41 (8), pp. 933-934. Date of Electronic Publication: 2016 Oct 16.
Typ publikacji:
Case Reports; Letter
MeSH Terms:
Mutation*
Adenosine Deaminase/*genetics
Foot Dermatoses/*genetics
Hand Dermatoses/*genetics
Pigmentation Disorders/*congenital
RNA Splice Sites/*genetics
Adolescent ; Genetic Predisposition to Disease ; Humans ; Male ; Pigmentation Disorders/genetics
SCR Disease Name:
Dyschromatosis symmetrica hereditaria 1
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed.
Autorzy:
Forman OP; Kennel Club Genetics Centre, Animal Health Trust, Newmarket, Suffolk, CB8 7UU, United Kingdom .
Hitti RJ; Kennel Club Genetics Centre, Animal Health Trust, Newmarket, Suffolk, CB8 7UU, United Kingdom.
Pettitt L; Kennel Club Genetics Centre, Animal Health Trust, Newmarket, Suffolk, CB8 7UU, United Kingdom.
Jenkins CA; Kennel Club Genetics Centre, Animal Health Trust, Newmarket, Suffolk, CB8 7UU, United Kingdom.
O'Brien DP; College of Veterinary Medicine, University of Missouri, Columbia, Missouri 65211.
Shelton GD; Department of Pathology, University of California, San Diego, La Jolla, California 92093-0709.
De Risio L; Department of Neurology, Small Animal Clinic, Animal Health Trust, Newmarket, Suffolk, CB8 7UU, United Kingdom.
Quintana RG; The School of Veterinary Medicine, University of Glasgow, G61 1QH, United Kingdom.
Beltran E; Department of Clinical Science and Services, Royal Veterinary College, University of London, Hatfield, Hertfordshire, AL9 7TA, United Kingdom.
Mellersh C; Kennel Club Genetics Centre, Animal Health Trust, Newmarket, Suffolk, CB8 7UU, United Kingdom.
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Źródło:
G3 (Bethesda, Md.) [G3 (Bethesda)] 2016 Sep 08; Vol. 6 (9), pp. 2687-92. Date of Electronic Publication: 2016 Sep 08.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Predisposition to Disease*
Genome-Wide Association Study*
Hereditary Sensory and Autonomic Neuropathies/*genetics
Neoplasm Proteins/*genetics
Animals ; Base Sequence ; Breeding ; Chromosome Inversion/genetics ; Chromosome Mapping ; Dogs ; Exons/genetics ; Female ; Genotype ; Hereditary Sensory and Autonomic Neuropathies/pathology ; Hereditary Sensory and Autonomic Neuropathies/veterinary ; Humans ; Intracellular Signaling Peptides and Proteins ; Male ; Membrane Proteins ; Motor Neurons/pathology ; Mutation ; RNA Splice Sites/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
mRNA-Associated Processes and Their Influence on Exon-Intron Structure in Drosophila melanogaster.
Autorzy:
Lepennetier G; Institute for Evolution and Biodiversity, University of Münster, 48149, Germany.
Catania F; Institute for Evolution and Biodiversity, University of Münster, 48149, Germany .
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Źródło:
G3 (Bethesda, Md.) [G3 (Bethesda)] 2016 Jun 01; Vol. 6 (6), pp. 1617-26. Date of Electronic Publication: 2016 Jun 01.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Exons*
Introns*
RNA Splicing*
Drosophila melanogaster/*genetics
RNA, Messenger/*genetics
Animals ; Drosophila melanogaster/metabolism ; Polyadenylation ; RNA Cap-Binding Proteins/metabolism ; RNA Cleavage ; RNA Processing, Post-Transcriptional ; RNA Splice Sites
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis.
Autorzy:
Ortega-Recalde O; Genetics Unit, GENIUROS Group, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.
Moreno MB; Genetics Unit, GENIUROS Group, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.
Vergara JI; Department of Dermatology, Universidad Autónoma de Bucaramanga, Bucaramanga, Colombia.; Dermatology Unit, Clínica Carlos Ardila Lulle, Bucaramanga, Colombia.
Fonseca DJ; Genetics Unit, GENIUROS Group, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.; Department of Molecular Genetics, Genética Molecular de Colombia, Bogotá, Colombia.
Rojas RF; Department of Dermatology, Universidad Autónoma de Bucaramanga, Bucaramanga, Colombia.; Dermatology Unit, Clínica Carlos Ardila Lulle, Bucaramanga, Colombia.
Mosquera H; Department of Dermatology, Universidad Autónoma de Bucaramanga, Bucaramanga, Colombia.; Dermatology Unit, Clínica Carlos Ardila Lulle, Bucaramanga, Colombia.
Medina CL; Department of Dermatology, Universidad Autónoma de Bucaramanga, Bucaramanga, Colombia.; Dermatology Unit, Clínica Carlos Ardila Lulle, Bucaramanga, Colombia.
Restrepo CM; Genetics Unit, GENIUROS Group, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.; Department of Molecular Genetics, Genética Molecular de Colombia, Bogotá, Colombia.
Laissue P; Genetics Unit, GENIUROS Group, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.; Department of Molecular Genetics, Genética Molecular de Colombia, Bogotá, Colombia.
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Źródło:
Clinical and experimental dermatology [Clin Exp Dermatol] 2015 Oct; Vol. 40 (7), pp. 757-60. Date of Electronic Publication: 2015 Mar 09.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Predisposition to Disease*
Mutation*
Ichthyosiform Erythroderma, Congenital/*genetics
RNA Splice Sites/*genetics
Transglutaminases/*genetics
Adult ; Female ; Genes, Recessive ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Using Targeted Resequencing for Identification of Candidate Genes and SNPs for a QTL Affecting the pH Value of Chicken Meat.
Autorzy:
Li X; Swedish University of Agricultural Sciences, SE-750 07 Uppsala, Sweden.
Liu X; Department of Ecology and Genetics, Plant Ecology and Evolution, Uppsala University, SE-752 36 Uppsala, Sweden.
Nadaf J; INRA, UR83 Recherches Avicoles, Nouzilly, 37380, France, Roslin Institute and R(D)SVS, University of Edinburgh, Midlothian, EH25 9RG, United Kingdom.
Le Bihan-Duval E; INRA, UR83 Recherches Avicoles, Nouzilly, 37380, France.
Berri C; INRA, UR83 Recherches Avicoles, Nouzilly, 37380, France.
Dunn I; Roslin Institute and R(D)SVS, University of Edinburgh, Midlothian, EH25 9RG, United Kingdom.
Talbot R; Roslin Institute and R(D)SVS, University of Edinburgh, Midlothian, EH25 9RG, United Kingdom.
De Koning DJ; Swedish University of Agricultural Sciences, SE-750 07 Uppsala, Sweden, Roslin Institute and R(D)SVS, University of Edinburgh, Midlothian, EH25 9RG, United Kingdom .
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Źródło:
G3 (Bethesda, Md.) [G3 (Bethesda)] 2015 Aug 14; Vol. 5 (10), pp. 2085-9. Date of Electronic Publication: 2015 Aug 14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Association Studies*
Hydrogen-Ion Concentration*
Polymorphism, Single Nucleotide*
Quantitative Trait Loci*
Quantitative Trait, Heritable*
Chickens/*genetics
Meat/*standards
Animals ; CpG Islands ; High-Throughput Nucleotide Sequencing ; Promoter Regions, Genetic ; RNA Splice Sites ; Untranslated Regions
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Gene Model Annotations for Drosophila melanogaster: The Rule-Benders.
Autorzy:
Crosby MA; Department of Molecular and Cellular Biology, Harvard University, Cambridge, Massachusetts 02138, .
Gramates LS; Department of Molecular and Cellular Biology, Harvard University, Cambridge, Massachusetts 02138.
Dos Santos G; Department of Molecular and Cellular Biology, Harvard University, Cambridge, Massachusetts 02138.
Matthews BB; Department of Molecular and Cellular Biology, Harvard University, Cambridge, Massachusetts 02138.
St Pierre SE; Department of Molecular and Cellular Biology, Harvard University, Cambridge, Massachusetts 02138.
Zhou P; Department of Molecular and Cellular Biology, Harvard University, Cambridge, Massachusetts 02138.
Schroeder AJ; Department of Molecular and Cellular Biology, Harvard University, Cambridge, Massachusetts 02138.
Falls K; Department of Molecular and Cellular Biology, Harvard University, Cambridge, Massachusetts 02138.
Emmert DB; Department of Molecular and Cellular Biology, Harvard University, Cambridge, Massachusetts 02138.
Russo SM; Department of Molecular and Cellular Biology, Harvard University, Cambridge, Massachusetts 02138.
Gelbart WM; Department of Molecular and Cellular Biology, Harvard University, Cambridge, Massachusetts 02138.
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Corporate Authors:
FlyBase Consortium
Źródło:
G3 (Bethesda, Md.) [G3 (Bethesda)] 2015 Jun 24; Vol. 5 (8), pp. 1737-49. Date of Electronic Publication: 2015 Jun 24.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Molecular Sequence Annotation*
Drosophila melanogaster/*genetics
Animals ; Base Sequence ; Codon, Terminator ; Databases, Genetic ; Mitochondria/genetics ; Mitochondria/metabolism ; Models, Genetic ; Protein Biosynthesis ; RNA Editing ; RNA Splice Sites
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family.
Autorzy:
Eytan O; Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.
Sarig O
Israeli S
Mevorah B
Basel-Vanagaite L
Sprecher E
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Źródło:
Clinical and experimental dermatology [Clin Exp Dermatol] 2014 Mar; Vol. 39 (2), pp. 182-6. Date of Electronic Publication: 2013 Dec 02.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Mutation*
Carrier Proteins/*genetics
Hip Dislocation, Congenital/*genetics
Keratoderma, Palmoplantar/*genetics
RNA Splice Sites/*genetics
Adaptor Proteins, Vesicular Transport ; Adult ; Female ; Genetic Predisposition to Disease ; Humans ; Introns/genetics
SCR Disease Name:
Keratosis palmoplantaris papulosa
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient.
Autorzy:
Wang HJ; Department of Dermatology, Peking University First Hospital, Beijing, China; Peking-Tsinghua Center for Life Sciences, Beijing, China.
Tang ZL
Lin ZM
Dai LL
Chen Q
Yang Y
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Źródło:
Clinical and experimental dermatology [Clin Exp Dermatol] 2014 Mar; Vol. 39 (2), pp. 158-61. Date of Electronic Publication: 2013 Dec 07.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Alopecia/*genetics
Ichthyosis/*genetics
Keratosis/*genetics
Metalloendopeptidases/*genetics
Photophobia/*genetics
RNA Splice Sites/*genetics
Facial Dermatoses/genetics ; Humans ; Introns/genetics ; Male ; Nails, Malformed/genetics ; Young Adult
SCR Disease Name:
Ichthyosis follicularis atrichia photophobia syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9.
Autorzy:
Fuchs-Telem D; Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Padalon-Brauch G
Sarig O
Sprecher E
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Źródło:
Clinical and experimental dermatology [Clin Exp Dermatol] 2013 Mar; Vol. 38 (2), pp. 189-92: quiz 192. Date of Electronic Publication: 2013 Feb 09.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Keratin-9/*genetics
Keratoderma, Palmoplantar, Epidermolytic/*genetics
Mutation, Missense/*genetics
RNA Splice Sites/*genetics
Exons ; Humans ; Male ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Infantile systemic hyalinosis associated with a putative splice-site mutation in the ANTXR2 gene.
Autorzy:
Fong K; St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.
Rama Devi AR
Lai-Cheong JE
Chirla D
Panda SK
Liu L
Tosi I
McGrath JA
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Źródło:
Clinical and experimental dermatology [Clin Exp Dermatol] 2012 Aug; Vol. 37 (6), pp. 635-8. Date of Electronic Publication: 2012 Feb 02.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Hyaline Fibromatosis Syndrome/*genetics
Membrane Proteins/*genetics
RNA Splice Sites/*genetics
Female ; Humans ; Infant ; Receptors, Peptide
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Novel splice-site and frameshift ATP2A2 mutations in Chinese patients with Darier disease.
Autorzy:
Shi HJ
Li M
Zhang GL
Xu SX
Shao MH
Gu Y
Du XF
Mu HJ
Xie P
Pokaż więcej
Źródło:
Clinical and experimental dermatology [Clin Exp Dermatol] 2012 Aug; Vol. 37 (6), pp. 677-9. Date of Electronic Publication: 2012 Feb 14.
Typ publikacji:
Letter; Research Support, Non-U.S. Gov't
MeSH Terms:
Asian People/*genetics
Darier Disease/*genetics
Frameshift Mutation/*genetics
RNA Splice Sites/*genetics
Sarcoplasmic Reticulum Calcium-Transporting ATPases/*genetics
Aged ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged
Raport
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Identification of two novel splice mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria.
Autorzy:
Liu H; Shandong Provincial Institute of Dermatology and Venereology, Jiyan Lu Shandong, China.
Fu XA
Yu YX
Yu GQ
Yan XX
Liu HX
Tian HQ
Zhang FR
Pokaż więcej
Źródło:
Clinical and experimental dermatology [Clin Exp Dermatol] 2011 Oct; Vol. 36 (7), pp. 797-9.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Adenosine Deaminase/*genetics
Asian People/*genetics
Pigmentation Disorders/*congenital
RNA Splice Sites/*genetics
China ; DNA Mutational Analysis ; Foot Dermatoses/genetics ; Genetic Predisposition to Disease ; Hand Dermatoses/genetics ; Humans ; Pigmentation Disorders/genetics ; Polymerase Chain Reaction/methods ; RNA-Binding Proteins
SCR Disease Name:
Dyschromatosis symmetrica hereditaria 1
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A strong exonic splicing enhancer in dystrophin exon 19 achieve proper splicing without an upstream polypyrimidine tract.
Autorzy:
Habara Y; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Doshita M
Hirozawa S
Yokono Y
Yagi M
Takeshima Y
Matsuo M
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Źródło:
Journal of biochemistry [J Biochem] 2008 Mar; Vol. 143 (3), pp. 303-10. Date of Electronic Publication: 2007 Nov 26.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Alternative Splicing/*genetics
Dystrophin/*genetics
Enhancer Elements, Genetic/*genetics
Exons/*genetics
Polyribonucleotides/*metabolism
Base Sequence ; Cell Extracts ; Cell Nucleus/genetics ; Genes, Reporter ; HeLa Cells ; Humans ; Molecular Sequence Data ; Mutation/genetics ; RNA Splice Sites/genetics ; Sequence Analysis, DNA ; Transfection
Czasopismo naukowe
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Wyświetlanie 1-20 z 21

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