Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin

scientific article

Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin is …
instance of (P31):
scholarly articleQ13442814
case reportQ2782326

External links are
P356DOI10.1086/342067
P3181OpenCitations bibliographic resource ID4126018
P932PMC publication ID379196
P698PubMed publication ID12089654
P5875ResearchGate publication ID11285264

P50authorDonna M. MartinQ47340885
P2093author name stringCatherine A Downs
David J Brown
Elizabeth M Petty
Jeff M Milunsky
Marci M Lesperance
Peter J Strouse
Sayoko E Moroi
Theresa B Kim
P2860cites workHeterozygous mutations in the gene encoding noggin affect human joint morphogenesisQ22009041
Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein bindingQ24291700
The Spemann organizer signal noggin binds and inactivates bone morphogenetic protein 4Q24315313
Identification of mammalian noggin and its expression in the adult nervous systemQ24337234
BMP4 is essential for lens induction in the mouse embryoQ24595509
Noggin-mediated antagonism of BMP signaling is required for growth and patterning of the neural tube and somiteQ24602347
Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndromeQ28201541
Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangismQ28202907
Noggin, cartilage morphogenesis, and joint formation in the mammalian skeletonQ28272018
A DNA polymorphism discovery resource for research on human genetic variationQ28292727
Developmental expression patterns of bone morphogenetic proteins, receptors, and binding proteins in the chick retinaQ31909705
Evolution and classification of cystine knot-containing hormones and related extracellular signaling moleculesQ34236101
Noggin and retinoic acid transform the identity of avian facial prominencesQ43847132
Expression cloning of noggin, a new dorsalizing factor localized to the Spemann organizer in Xenopus embryosQ44061010
Secreted noggin protein mimics the Spemann organizer in dorsalizing Xenopus mesodermQ46061817
An autosomal dominant inherited syndrome with congenital stapes ankylosisQ46859724
Congenital stapes ankylosis, broad thumbs, and hyperopia: report of a family and refinement of a syndromeQ48268251
The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia.Q50508787
Animal-vegetal asymmetries influence the earliest steps in retina fate commitment in Xenopus.Q51088914
Bmp4 mediates apoptotic cell death in the developing chick eye.Q52141585
A DNA Polymorphism Discovery Resource for Research on Human Genetic Variation: Table 1Q56566320
Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangismQ56607585
Evolution and Classification of Cystine Knot-Containing Hormones and Related Extracellular Signaling MoleculesQ63214578
P433issue3
P407language of work or nameEnglishQ1860
P921main subjectthumbQ83360
heterozygosityQ124059385
P304page(s)618-624
P577publication date2002-06-27
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleAutosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin
P478volume71

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cites work (P2860)
Q24337747A GDF5 point mutation strikes twice--causing BDA1 and SYNS2
Q37871531A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD).
Q35946239A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.
Q36099936A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder
Q24318483Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2
Q37158695Association of bone morphogenetic proteins with otosclerosis
Q33569875Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family
Q38740288BMP signalling in skeletal development, disease and repair.
Q48324427Congenital conductive hearing loss and multiple synostosis syndrome with analysis of temporal bone CT scan findings
Q50435234Ear and further anatomic anomalies in children undergoing stapedotomy
Q58288569Expression of bone morphogenetic protein 2, 4, 5, and 7 correlates with histological activity of otosclerotic foci
Q35008983Familial aggregation of hyperopia in an elderly population of siblings in Salisbury, Maryland
Q34507321GDF5 is a second locus for multiple-synostosis syndrome.
Q24680270GDF6, a novel locus for a spectrum of ocular developmental anomalies
Q37613190Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature
Q37845326Mechanisms of digit formation: Human malformation syndromes tell the story
Q37185997Molecular and clinical delineation of the 17q22 microdeletion phenotype
Q35096113Morpho-regulation of ectodermal organs: integument pathology and phenotypic variations in K14-Noggin engineered mice through modulation of bone morphogenic protein pathway
Q34991546Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene
Q34103873Mutational analysis of NOG in esophageal atresia and tracheoesophageal fistula patients.
Q36494921Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis
Q46151976Noggin is required for first pharyngeal arch differentiation in the frog Xenopus tropicalis
Q28250960Role of hindbrain in inner ear morphogenesis: analysis of Noggin knockout mice
Q37778384Signaling Pathways in Human Skeletal Dysplasias
Q36319692Temporal Bone Histopathology in NOG-Symphalangism Spectrum Disorder
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Q83106618The Noggin null mouse phenotype is strain dependent and haploinsufficiency leads to skeletal defects
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