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brachydactyly/arginine
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15 résultats
Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.
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Post-translational protein modifications exponentially expand the functional complement of proteins encoded by the human genome. One such modification is the covalent addition of a methyl group to arginine or lysine residues, which is used to regulate a substantial proportion of the proteome.
Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings.
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OBJECTIVE
To characterize a kindred of Chiloe Islanders with spondyloepiphyseal dysplasia tarda (SEDT), brachydactyly, precocious osteoarthritis (OA), and intraarticular calcification.
METHODS
Sixteen family members underwent a complete physical examination, anthropometric measurements, radiographic
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.
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BACKGROUND
The majority of COL2A1 missense mutations are substitutions of obligatory glycine residues in the triple helical domain. Only a few non-glycine missense mutations have been reported and among these, the arginine to cysteine substitutions predominate.
OBJECTIVE
To investigate in more
Brachydactyly type A2 associated with a defect in proGDF5 processing.
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We investigated a family with a brachydactyly type A2 and identified a heterozygous arginine to glutamine (R380Q) substitution in the growth/differentiation factor 5 (GDF5) in all affected individuals. The observed mutation is located at the processing site of the protein, at which the GDF5
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.
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Brachydactyly (BD) type A2 is an autosomal dominant hand malformation characterized by shortening and lateral deviation of the index fingers and, to a variable degree, shortening and deviation of the first and second toes. We performed linkage analysis in two unrelated German families and mapped a
Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome.
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OBJECTIVE
A recurrent point mutation in the fibroblast growth factor receptor 3 gene that converts proline 250 into arginine has been reported recently in cases of apparently nonsyndromic coronal craniosynostosis. The goal of the present study was to examine the phenotype of patients in whom this
Brachdactyly Instigated as a Result of Mutation in GDF5 and NOG Genes in Pakistani Population.
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UNASSIGNED
Brachdactyly a genetic disorder associated with the abnormal development of metacarpals, phalanges or both which results in the shortening of hands and feet. Mutations in the contributing genes has been recognized with the majority of the investigated syndromic form of brachdactyly. The
Bardet-Biedl syndrome and cystinuria.
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An unusual association of Bardet-Biedl syndrome with cystinuria was described in one patient. A 21-year-old male was admitted to hospital because of renal failure, severe deterioration of visual acuity, polydactyly, brachydactyly, and mental retardation. Laboratory investigations revealed a serum
Identification of a novel NOG mutation in a Chinese family with proximal symphalangism.
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Proximal symphalangism (SYM1) is an autosomal dominant disorder, mainly characterized by variable fusion of the proximal interphalangeal joints of the hands and feet. To date, two genes, GDF5 and NOG, have been reported to associate with SYM1. Herein, we clinically characterized a Chinese family
Hereditary osteoarthritis with mild spondyloepiphyseal dysplasia--are there "hot spots" on COL2A1?
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OBJECTIVE
To define the genetic basis of a family with an autosomal, dominantly inherited form of spondyloepiphyseal dysplasia (SED) associated with tall stature.
METHODS
A 6 generation family with early onset osteoarthritis (OA) associated with mild SED was studied. 14 individuals were examined
Precocious osteoarthritis in a family with recurrent COL2A1 mutation.
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OBJECTIVE
To examine the genotypic and phenotypic characteristics of a Micronesian kindred with autosomal dominant precocious osteoarthritis (OA).
METHODS
We reviewed records and radiographs of 3 index patients and their parents, administered questionnaires to 16 additional kindred members,
Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations.
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Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyze the transfer of methyl groups from S-adenosyl-l-methionine to nitrogen atoms on arginine residues. Arginine methylation is involved in multiple biological processes, such as signal transduction, mRNA
Further delineation of the phenotype caused by loss of function mutations in PRMT7.
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PRMT7 encodes for an arginine methyltransferase that methylates arginine residues on various protein substrates and has been shown to play a role in various developmental processes. Mutations in PRMT7 have been recently shown to be implicated in a phenotype with intellectual disability, short
Expanding the clinical and molecular spectrum of PRMT7 mutations: three additional patients and review.
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Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyze the transfer of methyl groups from S-adenosyl-l-methionine to nitrogen atoms on arginine residues. Arginine methylation is involved in multiple biological processes, such as signal transduction, mRNA
Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance.
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Albright hereditary osteodystrophy (AHO) is a genetic disorder caused by heterozygous inactivating mutations in GNAS1, the gene encoding the alpha-chain of G(s), and is associated with short stature, obesity, brachydactyly, and sc ossifications. AHO patients with GNAS1 mutations on maternally
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