Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia
about
Genome-wide association studies in an isolated founder population from the Pacific Island of KosraeAccelerated evolution of 3'avian FOXE1 genes, and thyroid and feather specific expression of chicken FoxE1Expression and function of the homeodomain-containing protein Hex in thyroid cells.FOXC1 transcriptional regulation is mediated by N- and C-terminal activation domains and contains a phosphorylated transcriptional inhibitory domainPartial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and miceFOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palateThe forkhead factor FoxE1 binds to the thyroperoxidase promoter during thyroid cell differentiation and modifies compacted chromatin structureA novel FOXE1 mutation (R73S) in Bamforth-Lazarus syndrome causing increased thyroidal gene expressionThyroid transcription factors in development, differentiation and diseaseLack of the central nervous system- and neural crest-expressed forkhead gene Foxs1 affects motor function and body weightSOX2 is an amplified lineage-survival oncogene in lung and esophageal squamous cell carcinomasCleft lip and palate genetics and application in early embryological development.Cancer risk in persons with oral cleft--a population-based study of 8,093 cases.Congenital hypothyroidism.Thyroid disease in relation to pregnancy: a decade of change.TRANSCRIPTION FACTOR GLI-SIMILAR 3 (GLIS3): IMPLICATIONS FOR THE DEVELOPMENT OF CONGENITAL HYPOTHYROIDISM.Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism.The spectrum of thyroid diseases in childhood and its evolution during transition to adulthood: natural history, diagnosis, differential diagnosis and management.Congenital thyroid hemiagenesis with multinodular goiterThe ambiguous role of NKX2-5 mutations in thyroid dysgenesis.A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid functionLingual thyroid and hyperthyroidism: a new case and review of the literature.Null mutations in the lin-31 gene indicate two functions during Caenorhabditis elegans vulval developmentDetection and treatment of congenital hypothyroidism.New insights into FoxE1 functions: identification of direct FoxE1 targets in thyroid cellsFunctional zebrafish studies based on human genotyping point to netrin-1 as a link between aberrant cardiovascular development and thyroid dysgenesisGenes and translocations involved in POF.Thyroid-specific transcription factors and their roles in thyroid cancer.Sublingual thyroid ectopy: similarities and differences with Kallmann syndrome.Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studiesGenetics of congenital hypothyroidismA single nucleotide polymorphism associated with isolated cleft lip and palate, thyroid cancer and hypothyroidism alters the activity of an oral epithelium and thyroid enhancer near FOXE1DLX4 is associated with orofacial clefting and abnormal jaw development.Molecular mechanisms of thyroid dysgenesis.Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism.A singular case of Graves' disease in congenital thyroid hemiagenesis.Thyroid hemiagenesis: a report of three cases and review of the literature.Genetics of nonsyndromic orofacial cleftsIn control of biology: of mice, men and FoxesConserved Telomere Length in Human Ectopic Thyroids: An Argument Against Premature Differentiation Causing Arrested Migration.
P2860
Q21145019-633DCB92-D144-4946-ABE5-7EF421A1BE14Q21284049-79115F66-E8C5-48BD-84F7-EADE27FBBF15Q22254377-2C299647-87FB-4419-9C87-D56F94A31A3DQ24292130-96D4B526-6B23-4D6B-8489-C2F151A744D9Q24551193-09B3F4F3-5216-4B87-AA5E-9A116ABFB011Q24655358-1D85DADD-3C5D-4F1E-98AB-7130FA969051Q24681670-6D619C41-EA87-499E-9B38-91B9D66024BFQ28115316-3E4EE980-4E07-4F6E-99A5-F42E3BA70514Q28250485-B7DD1757-1038-479C-8A06-81461AC75ABBQ28512033-A7C1C7E7-5BD7-4E04-9721-F5C53546BE90Q30491937-6E013418-F464-4B7D-B12D-48102BECD8BBQ33671456-27EBAE90-0443-4D7E-95CB-A9B860CFA204Q33729995-20122BD5-B457-4EB3-9B4D-E26171FBF556Q33991810-8B97ADD7-8337-4730-9B09-305094F04091Q34022499-2918A425-E63A-4E9A-8D66-D3B78CEAF9D2Q34040124-DA891D44-5576-42E2-8B26-B66641192500Q34081804-378A9FF9-0996-4C6B-A2A2-DBE8CA5BA70FQ34444307-7515BABA-C749-4231-9739-927D77AC8406Q34461194-F991E1B8-FA0C-46B1-81BB-158E8E7263F2Q34534411-077510B6-8DE8-4367-AB03-D26156310965Q34585754-28029504-E86F-4041-8EC9-807C8F990227Q34590242-A4DE3B3D-8F21-49FF-985A-50F8E9432E3FQ34611115-853508F4-EC27-4FC3-8772-2DF91FDA5E3DQ34633112-CD39B129-8DE2-4FEF-A5AF-13BE6F561C89Q34722708-E5008D08-E6B7-4ADA-8A07-71E45F045EE1Q34745253-8898688A-7085-4BAC-A541-8A511722594EQ34811120-C6239E06-04CA-4EC1-B52D-A15BB54D91DEQ35038884-B34E93DB-63DD-43D9-9CA0-AC7BC6564F55Q35105669-8F0689B1-D800-4249-B39B-AA8EFA0A3C3EQ35286565-87C573F5-90AF-4F61-8099-87207A53F40EQ35448393-932D65B6-3A46-41A2-9701-03A2852F0C83Q35766367-F542209B-BC13-4719-9789-56E324F17F17Q35821152-C2611A84-29EB-42F0-B92D-A7036C6088DCQ35946574-7A9A93BB-CAB6-44A3-8455-C0C9A506378BQ35990311-9852A37B-A892-4222-9110-B9210C47D578Q36073673-1F632CD8-0253-42F4-81A0-5C0A8967E5D3Q36135023-D2E5DAF5-B2EB-4BE5-BD03-F9719C1917F8Q36219320-7BFFFE48-4597-4314-B918-304237815696Q36515335-45E5922A-AB5A-43FF-AD13-CA4010909C6EQ36558335-FBBB7DBF-DE20-46F4-B003-0D4493F00709
P2860
Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia
description
1998 nî lūn-bûn
@nan
1998 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Mutation of the gene encoding ...... eft palate and choanal atresia
@ast
Mutation of the gene encoding ...... eft palate and choanal atresia
@en
Mutation of the gene encoding ...... eft palate and choanal atresia
@en-gb
Mutation of the gene encoding ...... eft palate and choanal atresia
@nl
type
label
Mutation of the gene encoding ...... eft palate and choanal atresia
@ast
Mutation of the gene encoding ...... eft palate and choanal atresia
@en
Mutation of the gene encoding ...... eft palate and choanal atresia
@en-gb
Mutation of the gene encoding ...... eft palate and choanal atresia
@nl
prefLabel
Mutation of the gene encoding ...... eft palate and choanal atresia
@ast
Mutation of the gene encoding ...... eft palate and choanal atresia
@en
Mutation of the gene encoding ...... eft palate and choanal atresia
@en-gb
Mutation of the gene encoding ...... eft palate and choanal atresia
@nl
P2093
P50
P3181
P356
P1433
P1476
Mutation of the gene encoding ...... eft palate and choanal atresia
@en
P2093
P2888
P304
P3181
P356
10.1038/1294
P407
P577
1998-08-01T00:00:00Z
P5875
P6179
1029730098