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#11. Ccdc40 (coiled-coil domain containing 40)

Predicted to be active in cytoplasm and motile cilium. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 15. Orthologous to human CCDC40 ( ...

#12. COILED-COIL DOMAIN-CONTAINING PROTEIN 40; CCDC40 ...

613799 - COILED-COIL DOMAIN-CONTAINING PROTEIN 40; CCDC40 - KIAA1640 - CCDC40.

#13. CCDC40 - Homo sapiens (Human) | Publications | UniProtKB

Annotation. CCDC40 mutation as a cause of infertility in a Chinese family with primary ciliary dyskinesia. · Categories. Sequences, Disease & Variants · Source.

#14. CCDC40 Antibodies, cDNA Clones Research Reagents

CCDC40 (Coiled-Coil Domain Containing 40), located on human chromosome 17q25.3, is required for assembly of dynein regulatory complex (DRC) and inner dynein ...

#15. Rabbit Polyclonal Anti-CCDC40 Antibody - Buy for research

Rabbit Polyclonal Anti-CCDC40 Antibody against Human coiled-coil domain containing 40. Antibody validation: Validated for Immunofluorescence and ...

#16. CCDC40 (Human) Recombinant Protein (P01) - Abnova

Human CCDC40 full-length ORF ( XP_939608.1, 1 a.a. - 478 a.a.) recombinant protein with GST-tag at N-terminal. (H00055036-P01) - Products - Abnova.

#17. C57BL/6NJ-Ccdc40 em1(IMPC)J /Mmjax

Ccdc40 encodes a protein that may be required for assembly of dynein regulatory complex and inner dynein arm complexes, which are responsible for ciliary beat ...

#18. Coiled-coil domain-containing protein 40 (IPR037386) - InterPro

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Becker-Heck A, Zohn IE, Okabe N, ...

#19. CCDC40 protein (human) - STRING interaction network

CCDC40, Coiled-coil domain-containing protein 40; Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, ...

#20. ccdc40 - ZFIN Gene

ccdc40 · Protein Domains. Domain, Family, and Site Summary. Type, InterPro ID, Name. Family, IPR037386, Coiled-coil domain-containing protein 40. 1 - 1 of 1.

#21. CCDC40 antibody (25049-1-AP) - Proteintech

Proteintech's Rabbit Polyclonal CCDC40 antibody is validated in WB,ELISA and shows reactivity with human samples.

#22. Recombinant Human CCDC40 GST (N-Term) Protein

Recombinant Human CCDC40 GST (N-Term) Protein. Backed by our 100% Guarantee.

#23. CCDC40 - Coiled-coil domain-containing protein 40 - Function

NX_Q4G0X9 - CCDC40 - Coiled-coil domain-containing protein 40 - Function. Required for assembly of dynein regulatory complex (DRC) and inner dynein arm ...

#24. All variants in the CCDC40 gene - Global Variome shared LOVD

DNA change (cDNA) RNA change Protein Clinical classification DNA change (geno... c.18C>T r.(?) p.(Gly6=) VUS g.78010479C>T c.38C>T r.(?) p.(Pro13Leu) VUS g.78011930C>T c.91A>G r.(?) p.(Met31Val) VUS g.78011983A>G

#25. Primary Ciliary Dyskinesia (PCD) via the CCDC40 Gene Test

Test Code, Test Copy Genes, Test CPT Code, Gene CPT Codes Copy CPT Code, Base Price. 11149, CCDC40, 81479, 81479,81479, $890, Order Options and Pricing ...

#26. Anti-CCDC40 monoclonal antibody (DCABH-200334)

A synthetic peptide of human CCDC40 is used for rabbit immunization. ... This gene encodes a protein that is necessary for motile cilia function. It functions in ...

#27. CCDC40 Human qPCR Primer Pair (NM_017950) - OriGene

qSTAR qPCR primer pairs against Homo sapiens gene CCDC40. ... tagged) - Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 2.

#28. CCDC40 Associated with Primary Ciliary Dyskinesia | PGPM

CCDC40 is a gene encoding a highly-preserved protein that controls ciliary beating via regulating the assembling of inner dynein arm and dynein ...

#29. Recombinant Mouse CCDC40 protein ... - antibodies-online

Crystallography grade CCDC40 宿主: 小鼠 宿主: Insect Cells Recombinant >95 % as determined by SDS PAGE, Size Exclusion Chromatography and Western Blot.

#30. CCDC40 Polyclonal Antibody (25049-1-AP)

Proteintech Anti-CCDC40 Polyclonal, Catalog # 25049-1-AP. Tested in Western Blot (WB) applications. This antibody reacts with Human samples.

#31. CCDC40 Single Gene - Fulgent Genetics

Sequence variants and/or copy number variants (deletions/duplications) within the CCDC40 gene will be detected with >99% sensitivity.

#32. Mouse Coiled-coil domain-containing protein 40 (CCDC40 ...

Mouse Coiled-coil domain-containing protein 40 (CCDC40) ELISA Kit is an ELISA Kit for the in vitro quantitative measurement of Mouse Coiled-coil ...

#33. Sheep Coiled-coil domain-containing protein 40 (CCDC40 ...

More Information. Product Name, Sheep Coiled-coil domain-containing protein 40 (CCDC40) ELISA Kit. Species, Sheep. All Research Products are sold for ...

#34. Generation of the induced pluripotent stem cell line ...

... with mutations in CCDC40 gene causing Primary Ciliary Dyskinesia (PCD) ... three germ layers in vivo and retained the disease-causing CCDC40 mutations.

#35. CCDC40 - Genomics England PanelApp

Red CCDC40 in Non-CF bronchiectasis. Level 3: Respiratory ciliopathies. Level 2: Ciliopathies Version 1.29. review, Not set ...

#36. CCDC40 mutations in primary ciliary dyskinesia - ResearchGate

2609G>A) in CCDC40 gene, which altered the protein sequence and resulted in the ultrastructural defects (IDA defect and axonemal disorganization) in the ...

#37. CCDC40 CRISPR Knockout and Activation Products (h) | SCBT

CCDC40 CRISPR Knockout and Activation Plasmids (h) designed to edit, knockdown or upregulate human CCDC40 gene expression.

#38. CCDC40 蛋白| 1 product from 1 supplier

基因信息- 人类CCDC40. 同义词:CILD15; FAP172; 描述:coiled-coil domain containing 40. do you know? we limit the listing of re-branded antibodies to provide ...

#39. 478 a.a.) Recombinant Protein with GST-tag at N-terminal ...

Human CCDC40 Full-length ORF (XP_939608.1, 1 a.a. - 478 a.a.) Recombinant Protein with GST-tag at N-terminal, Abnova; For use in AP, Array, ELISA, ...

#40. CCDC40 elisa kit :: Human Coiled coil domain containing ...

Buy CCDC40 elisa kit, Human Coiled coil domain containing protein 40 (CCDC40) ELISA Kit-NP_001230271.1 (MBS7230749) product datasheet at MyBioSource, ...

#41. CCDC40 | Test catalog - Invitae

Associated disorders. The CCDC40 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 462487). Show more ...

#42. CCDC40 single gene test - Blueprint Genetics

CCDC40 single gene test. Analysis methods. PLUS. Availability. Results in 3-4 weeks. Test code. S00308. CPT Code *. 81479. Phenotype. Ciliary dyskinesia.

#43. CCDC40 Result Summary - BioGRID

Interactor Organism / Chemical Type Evidence CENPH H. sapiens 3. View ANKRD26 H. sapiens 2. View COG4 H. sapiens 2. View

#44. Anti-CCDC40 antibody (ab121727) - Abcam

Rabbit polyclonal CCDC40 antibody. Validated in WB, IHC, ICC/IF and tested in Human. Cited in 1 publication(s). Immunogen corresponding to synthetic ...

#45. CCDC40 - DECIPHER v11.17

CCDC40 17:80036632-80100613. Forward strand gene: coiled-coil domain containing 40. Also known as: CFAP172, FAP172, CILD15, FLJ32021, KIAA1640, FLJ20753, ...

#46. CCDC40 - Curated Genes - ClinGen

Gene, Disease, Working Group, HI Score & TS Score, Report & Date. CCDC40, primary ciliary dyskinesia 15. MONDO:0013435.

#47. 原发性纤毛运动障碍家族病例中的新型复合杂合CCDC40 突变

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by motile ciliary dysfunction and impaired ultrastructure.

#48. List of variants in gene CCDC40 reported as pathogenic for ...

HGVS dbSNP gnomAD frequency NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00032 NM_017950.4(CCDC40):c.1073dup (p.Arg359fs) rs781507988 0.00002 NM_017950.4(CCDC40):c.1312A>T (p.Lys438Ter) rs371595543 0.00001

#49. Human Gene CCDC40 (ENST00000397545.9) from ...

Human Gene CCDC40 (ENST00000397545.9) from GENCODE V43. Description: Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.

#50. Anti-CCDC40 Antibody Products - Biocompare

Anti-CCDC40 antibodies are offered by a number of suppliers. This target gene encodes the protein 'coiled-coil domain containing 40' in humans ...

#51. CCDC 40 – 2018 Rules for Mediation and Arbitration of ...

CCDC 40 – Rules for Mediation and Arbitration of Construction Disputes sets out specific methods for settling disputes incorporating the concepts of ...

#52. Ccdc40 Mouse Gene Details | coiled-coil domain containing 40

Phenotype data for mouse gene Ccdc40. Discover Ccdc40's significant phenotypes, expression, images, histopathology and more. Data for gene Ccdc40 is all ...

#53. CCDC40 Protein (AA 1-1192) (His tag)

Recombinant Mouse CCDC40 Protéine exprimée à partir de Insect Cells. Conjugué à His tag.Commandez la protéine ABIN3136175 en ligne.

#54. CCDC40 (mouse) - PhosphoSite

Not required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39. Belongs to the CCDC40 family. 2 alternatively spliced human ...

#55. HGMD® gene result - Cardiff University

Gene symbol, Chromosomal location, Gene name, Mutation total, Log in. CCDC40, 17q25.3, Coiled-coil domain containing 40, 44 ...

#56. CCDC40 antibody Immunohistochemistry, Western HPA022974

The gene CCDC40 (coiled-coil domain containing 40) is mapped to human chromosome 17. It is present in tissues which possesses motile cilia.

#57. Mutations in CCDC39 and CCDC40 are a major cause ... - Cilia

Our results highlight the key role of the CCDC39 and CCDC40 genes in PCD with radial spoke defect, and suggest that disease is associated with ...

#58. CCDC40 - Medizinische Fakultät

Similar to CCDC39, mutations of CCDC40 lead to an inner dynein arm (IDA) and microtubular disorganisation defect. The beating pattern of the cilia is ...

#59. Dmel\l(2)41Ab - FlyBase Gene Report

Orthologous to human CCDC40 (coiled-coil domain containing 40). (Alliance, FBgn0262123 ). (FlyBase Automatically Generated Summary).

#60. CCDC40 Fusion Protein Ag20034 | Proteintech - 武汉三鹰

CCDC40 human Fusion Protein 6*His from Proteintech. Produced in E.coli-derived, PET28a, with high quality purity. Cat.No. Ag20034.

#61. Delineation of CCDC39/CCDC40 mutation ... - Europe PMC

CCDC39 and CCDC40 genes have recently been implicated in primary ciliary dyskinesia (PCD) with inner dynein arm (IDA) defects and axonemal disorganisation; ...

#62. Clinical Features of Childhood Primary Ciliary Dyskinesia by ...

Two recently described PCD genes, CCDC39 and CCDC40, are associated with a distinct ultrastructural pattern that had not been recognized ...

#63. Mutations in CCDC39 and CCDC40 are the Major Cause of ...

Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms.

#64. CCDC40 mutation as a cause of infertility in a Chinese famil...

CCDC40 is an evolutionarily conserved coiled coil domain-containing protein and mutation of CCDC40 results in cilia will reduce the ranges of ...

#65. Mechanism for generation of left isomerism in Ccdc40 mutant ...

This model is further supported by the failure to establish Nodal expression in the left-LPM with reduced Nodal gene dosage in Ccdc40lnks/lnks ;Nodal LacZ/+ ...

#66. ANTI-CCDC40 | HPA022974-25UL | SIGMA ALDRICH | SLS

ANTI-CCDC40. Code: HPA022974-25UL D2-231. Application. All Prestige Antibodies Powered by Atlas Antibodies are developed and validated by the Human Protein ...

#67. Human CCDC40 Recombinant Protein - 重组蛋白 - EIAab

CCDC40 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different). 基因位点.

#68. Novel Compound Heterozygous Variants in CCDC40 ...

Primary ciliary dyskinesia (PCD) is a rare genetic disease caused by mutations of genes coding motile-cilia-related proteins. CCDC40 ...

#69. The coiled-coil domain containing protein CCDC40 is ...

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Anita Becker-Heck, Irene E Zohn, ...

#70. "Mechanism for generation of left isomerism in Ccdc40 mutant ...

Coiled-coil domain containing-40 (Ccdc40) plays an evolutionarily conserved role in the assembly of motile cilia and establishment of the left-right axis.

#71. CCDC40 gene with submissions organized by classifications

CCDC40. Return to list · Help. Gene Symbol: CCDC40. HGNC:26090. Locus Group: protein-coding gene. Locus Type: gene with protein product. Location: 17q25.3.

#72. CCDC40 - Wikidata

protein-coding gene in the species Homo sapiens. CILD15; FAP172; coiled-coil domain containing 40; CFAP172. In more languages. Spanish. CCDC40.

#73. CCDC40 associated with PCD and MMAF - YouTube

Supplementary video 2 of a case report paper "Novel Compound Heterozygous Variants in CCDC40 Associated with Primary Ciliary Dyskinesia and ...

#74. Anti-CCDC40 Rabbit Polyclonal Antibody (Alexa Fluor® 488)

Involvement in disease:Defects in CCDC40 are the cause of primary ciliary dyskinesia type 15 (CILD15) . A disorder characterized by abnormalities of motile ...

#75. NIH Public Access

CCDC40 localizes to motile cilia and the apical cytoplasm and is responsible for axonemal recruitment of. CCDC39, which is also mutated in a similar PCD variant ...

#76. CCDC40 (gene) - wikidoc

"Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia". Journal of Medical Genetics.

#77. CCDC40 mutation as a cause of infertility in a Chinese family ...

We report 2 novel mutations in CCDC40 gene (c.1259delA and EX17_20 deletion) resulted in immobility of sperm and infertility of the proband.

#78. Search Human Diseases - [el] CCDC40 - MalaCards

# Family MCID Name MIFTS Score 1 c CLR104 Ciliary Dyskinesia, Primary, 15 29 14.254 2 P PRM011 Primary Ciliary Dyskinesia 70 11.638 3 c CLR131 Ciliary Dyskinesia, Primary, 1 60 8.230

#79. KEGG T01001: 55036

55036 (CCDC40) Cilium and associated proteins [BR:hsa03037] Motile cilia and associated proteins 96 nano-molecular ruler 55036 (CCDC40)

#80. Mutations in CCDC39 and CCDC40 are the ... - CU Denver

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.

#81. CCDC40 Protein (AA 1-1192) (His tag) - Antikoerper-Online.de

Recombinant Mouse CCDC40 Protein exprimiert von Insect Cells. Konjugiert mit His tag. Bestellen Sie Protein ABIN3136175 online.

#82. CCDC40 - RealTimePrimers.com

CCDC40. VHPS-1583. $24.95. Product Description. Human coiled-coil domain containing 40. Back to Top. CATEGORIES. Home · PCR Arrays · qPCR Master Mix ...

#83. Delineation of CCDC39/CCDC40 mutation ... - HAL-Inserm

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. Marie Legendre, Sylvain Blanchon, ...

#84. CCDC40 (coiled-coil domain containing 40) | Gene Report

This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the ...

#85. Mutation overview page CCDC40 - p.P115L ( Substitution

COSM1640882; Gene name: CCDC40; AA mutation. p.P115L (Substitution - Missense, position 115, P➞L). CDS mutation. c.344C>T (Substitution, position 344, ...

#86. CCDC40 Human cDNA/ORF Clone - NovoPro Bioscience Inc.

CCDC40 (NM_017950) Human cDNA/ORF Clone. Accession NO. NM_017950. Transcript Name. Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant ...

#87. ccdc40 Expression [Xenopus] - Xenbase Gene Catalog

Gene Symbol: ccdc40 ... intestine kidney liver lung muscle ovary pancreas skin spleen stomach testis 50 40 30 20 10 0 Expression level (log2) L S ccdc40.

#88. CCDC40 (gene) - Wikiwand

CCDC40 is the gene in humans that encodes the protein named coiled-coil domain containing 40.[5]

#89. CCDC 40 (2018) - Ottawa Construction Association

CCDC 40 (2018). $20.00 – $26.00. Standard rules for mediation and arbitration of CCDC 2 construction disputes to be used in conjunction with the dispute ...

#90. CCDC 40 - 2018 (Hardcopy). Rules for Mediation and ...

CCDC 40 – 2018 (Hardcopy). Rules for Mediation and Arbitration of Construction Disputes. · Description · Related products · CCDC 3 – 2016 Seal · CCDC Complete Set ( ...

#91. Issues in Genetic Medicine: 2012 Edition - 第 275 頁 - Google 圖書結果

(2011 APR 4) University Hospital, Freiburg: The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis ...