Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1 - sprookjes - yvandenbroek - TriplyDB

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1

http://www.wikidata.org/entity/Q24682743

about

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.The glycinergic system in human startle disease: a genetic screening approach.Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.The value of some Corsican sub-populations for genetic association studies.esyN: network building, sharing and publishing Cytokine receptor-like factor 1 (CRLF1) protects against 6-hydroxydopamine toxicity independent of the gp130/JAK signaling pathway.Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.Warmth and nociceptive evoked potentials in cold-induced sweating syndrome type 1.Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology.LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism.Cytokine-like factor 1 (CLF1): life after development?Stüve-Wiedemann syndrome and related bent bone dysplasias.A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.Cold induced sweating syndrome with urinary system anomaly association.Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome.Isolated 'sign of the horns': a simple, pathognomonic, prenatal sonographic marker of Crisponi syndrome.Cytokine-Like Factor 1, an Essential Facilitator of Cardiotrophin-Like Cytokine:Ciliary Neurotrophic Factor Receptor α Signaling and sorLA-Mediated Turnover.Role of cytokine receptor-like factor 1 in hepatic stellate cells and fibrosis.HomozygosityMapper--an interactive approach to homozygosity mapping.SorLA and CLC:CLF-1-dependent Downregulation of CNTFRα as Demonstrated by Western Blotting, Inhibition of Lysosomal Enzymes, and Immunocytochemistry Janus kinase 2/signal transducer and activator of transcription 3 inhibitors attenuate the effect of cardiotrophin-like cytokine factor 1 and human focal segmental glomerulosclerosis serum on glomerular filtration barrier.Partial duplication of the PARK2 gene in a child with developmental delay and her normal mother: a second report.Mutations in CRLF1 cause familial achalasia.Corneal alterations in Crisponi/CISS1 syndrome: A slit-lamp biomicroscopy and in vivo confocal microscopy corneal report.Stüve-Wiedemann syndrome in a neonate.Crisponi/CISS1 syndrome: A case series.

P2860

Q24652468-E1251CE3-C73C-4BC4-BF78-EDE9C5A40ECE Q26748492-B22A8539-9DA0-4548-9D90-89F36512D046 Q28115028-DFCEDDAF-D081-4418-AC0E-BD5FE59F109F Q30403401-E651D461-71A7-4831-9DBD-B9029A7360FD Q30481905-9DD0A043-4FE5-4F5A-AC00-6113B54EFDA6 Q30538198-8E2C5C61-3817-4F10-831A-E379DC4343BD Q33355654-8EE7BFB8-5F98-4550-A073-DBC3D33E4690 Q34436467-DBEF97B7-C7E1-4FF1-BF60-8D22542149A1 Q34789499-096AAAC9-0AF6-4221-B43A-2B1216C7DDC5 Q34874065-A7DFF5AD-E91E-4BCD-BC21-AE2A758ACC49 Q34919649-ED7E29D3-3725-4A21-8428-00366C5E0DB8 Q35840736-2F9D4794-F361-4FD2-B3D4-D498423C402A Q37716721-545EED95-B160-463C-BF59-1EAC9A494DC5 Q37743327-F2E15D58-E486-42DD-AD90-BC0B43505EBB Q37895769-532386A1-6CB2-4AD2-97EB-09D3D2AC72FE Q37980884-732BCA17-D7E0-43C5-8C03-FD457ACAC7FE Q39889751-4D96E9BE-E063-443A-8984-16E658442C86 Q40219122-0A0442A8-F20D-4041-882B-A6B014E05A6D Q40233350-36FFE4EA-1494-45BB-8CE7-EA9212BD2087 Q40266872-30D47114-CA85-49C5-9B52-8AFB0CAA6C43 Q40294396-F13CE1F6-C861-4BBD-9A82-4A0E62C5AD9B Q40335221-6AE6CD27-BFFF-4F20-9AF2-91BBB19A4C75 Q41810192-4507BA9E-EFBF-4B93-8A64-F832F9A15503 Q41904211-A4770BDD-42A1-4C74-8A0B-29245F6BED18 Q42290257-EFE75120-8547-408F-B432-A1C352597BA7 Q43239317-60FF3A81-F7E3-444D-BF14-534F31093033 Q50740471-4DDFA88D-4BB2-4DCC-A111-67AF35F3DDE8 Q51262816-46D52FFD-EDAA-4101-928B-3620970DF174 Q51386590-1FFD3163-8E58-45E0-9EA4-2081DDF76A65 Q51641205-00174DA5-2BE5-44AF-B30D-B9EE46E38896 Q53298862-AEDA80D5-AC1D-4B00-A7BD-E5B98281E592

P2860

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1

http://www.wikidata.org/entity/Q24682743

description

2007 nî lūn-bûn

@nan

2007 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

2007 թվականի մայիսին հրատարակված գիտական հոդված

@hy

2007年の論文

@ja

2007年論文

@yue

2007年論文

@zh-hant

2007年論文

@zh-hk

2007年論文

@zh-mo

2007年論文

@zh-tw

2007年论文

@wuu

name

Crisponi syndrome is caused by ...... duced sweating syndrome type 1

@ast

Crisponi syndrome is caused by ...... duced sweating syndrome type 1

@en

Crisponi syndrome is caused by ...... duced sweating syndrome type 1

@nl

type

label

Crisponi syndrome is caused by ...... duced sweating syndrome type 1

@ast

Crisponi syndrome is caused by ...... duced sweating syndrome type 1

@en

Crisponi syndrome is caused by ...... duced sweating syndrome type 1

@nl

prefLabel

Crisponi syndrome is caused by ...... duced sweating syndrome type 1

@ast

Crisponi syndrome is caused by ...... duced sweating syndrome type 1

@en

Crisponi syndrome is caused by ...... duced sweating syndrome type 1

@nl

P1433

Q24682743-4BC5785E-2113-4293-AC83-13734CF7C1DD

P1476

Q24682743-FA44D648-44B8-4D8D-A0A9-13CCF9202EFE

P2093

Q24682743-078CA27C-8408-4A77-B232-7B537BA9ADEC

Q24682743-3CCBAB61-83F4-4B64-A50B-C1C2A07DBD5F

Q24682743-684F10F8-536D-4C69-852B-41251C1A90A7

Q24682743-83720231-3662-4595-B0C6-6149413543AC

Q24682743-9282BCDD-43D9-494E-A650-61C6011FEC58

Q24682743-AA85512C-31BA-46DD-BA6A-A48F9CAB7657

Q24682743-AEB26437-FE3D-4B92-BE5C-582D91688B9F

Q24682743-B5CEDF99-B39F-4974-A4D4-B2733D343221

Q24682743-CCB50A8D-845D-48EB-B44A-3D4EB2420666

Q24682743-CEB7A5BB-0803-4D88-8D66-BC9E68D3D142

P2860

Q24682743-01D5CF8A-9C89-4D25-8A90-928B5893AD87

Q24682743-0B5C9276-15A2-494E-814F-6C750A0622C8

Q24682743-235ED180-E9A8-4844-A021-CDBD8A8B3E96

Q24682743-23DB20DF-483D-46C3-9479-1DDB97FA9960

Q24682743-24CBDF0D-3444-453B-871E-327C149A11BC

Q24682743-3A202D3A-428B-4943-BD55-FA0F52F92B96

Q24682743-498CA66A-96CD-4A99-8A04-D390E6AE3ECB

Q24682743-4CADD9CD-B9B1-4C40-86E1-D3BBBF83FB4B

Q24682743-50DFBB97-80D3-41C1-A5AD-F5B3FADCF30B

Q24682743-6029E58D-B27B-4438-8A29-390A57B11AD1

P304

Q24682743-9BA24B8E-532E-40EF-9AA1-C0B696E31E61

P31

Q24682743-2A70BE41-4F37-4B3B-9079-AA1402F5BAE2

Q24682743-ef67060c-33e1-4067-9645-22c23544911a

P356

Q24682743-4721AB18-316E-465F-852B-1343E778F4BB

P407

Q24682743-855D35BD-CEFC-4194-B14A-889DD66A6871

P433

Q24682743-F215295F-EEF7-4F2E-A721-F772B0A8B1D0

P478

Q24682743-6192708F-E782-4F61-97F1-C6EE103D0819

P50

Q24682743-121F8C15-43F8-4BBA-9A1F-C8E968206E09

Q24682743-132C21FF-EB25-4703-81A5-65369804431E

Q24682743-1F1ECB1A-EBC1-442F-A1E6-3DE995565C81

Q24682743-215077D2-5A09-4080-AE9E-3B7E8F3C4703

Q24682743-5FE7C932-CE04-41E0-8E5C-B94DB7A20EA4

Q24682743-8EE35A9B-AC3F-4111-BA43-1416AFAC387C

Q24682743-91318386-2EC1-4E11-A430-C7B8B0196A55

Q24682743-9F8D7A06-E0F7-47B0-9376-D4C082279D0E

P577

Q24682743-2661E33B-EB1B-4DF6-848B-320558C5EA86

P5875

Q24682743-21F9C290-5BEA-4CCB-9906-B6CA0DF1EB7A

P698

Q24682743-62060571-9140-45AA-B4CE-BFC00F3238A3

P932

Q24682743-E4E38824-205F-4141-A816-E2F87CCD0E19

P356

P1433

American Journal of Human Genetics

P1476

Crisponi syndrome is caused by ...... duced sweating syndrome type 1

@en

P2093

Alessandra Meloni

http://www.w3.org/2001/XMLSchema#string

Christian Becker

http://www.w3.org/2001/XMLSchema#string

Cornelis Jakobs

http://www.w3.org/2001/XMLSchema#string

Francesca Chiappe

http://www.w3.org/2001/XMLSchema#string

Frank Rutsch

http://www.w3.org/2001/XMLSchema#string

Friedrich Strasser

http://www.w3.org/2001/XMLSchema#string

Gerd Kurlemann

http://www.w3.org/2001/XMLSchema#string

Giangiorgio Crisponi

http://www.w3.org/2001/XMLSchema#string

Gudrun Nurnberg

http://www.w3.org/2001/XMLSchema#string

Mohammad Reza Toliat

http://www.w3.org/2001/XMLSchema#string

P2860

CLF associates with CLC to form a functional heteromeric ligand for the CNTF receptor complex

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity

Mice lacking the CNTF receptor, unlike mice lacking CNTF, exhibit profound motor neuron deficits at birth

Cytokine-like factor-1, a novel soluble protein, shares homology with members of the cytokine type I receptor family

Interleukin-6-type cytokine signalling through the gp130/Jak/STAT pathway

Handling marker-marker linkage disequilibrium: pedigree analysis with clustered markers

Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient

Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene

Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement

Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes

P304

971-81

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1086/516843

http://www.w3.org/2001/XMLSchema#string

P407

P433

5

http://www.w3.org/2001/XMLSchema#string

P478

80

http://www.w3.org/2001/XMLSchema#string

P50

P577

2007-05-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

6392717

http://www.w3.org/2001/XMLSchema#string

P698

17436252

http://www.w3.org/2001/XMLSchema#string

P932

1852730

http://www.w3.org/2001/XMLSchema#string