X Linked Inheritance
Mostrando 1-12 de 126 artigos, teses e dissertações.
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1. Fabry disease: genetics, pathology, and treatment
SUMMARY Fabry disease (FD) is a recessive monogenic inheritance disease linked to chromosome X, secondary to mutations in the GLA gene. Its prevalence is estimated between 1:8,454 and 1:117,000 among males and is probably underdiagnosed. Mutations in the GLA gene lead to the progressive accumulation of globotriaosylceramide (Gb3). Gb3 accumulates in lysosome
Rev. Assoc. Med. Bras.. Publicado em: 13/01/2020
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2. A spontaneous body color mutation in Drosophila nappae (Diptera, Drosophilidae)
ABSTRACT A yellow-bodied male appeared spontaneously in an isofemale line of Drosophila nappae established from a wild-caught female collected at the Forest Reserve of the Instituto de Biociências da Universidade de São Paulo, Cidade Universitária "Armando de Salles Oliveira", São Paulo city, state of São Paulo, Brazil. This is the first mutation found
Rev. Bras. entomol.. Publicado em: 2017-04
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3. Neuromuscular disorders: genes, genetic counseling and therapeutic trials
Abstract Neuromuscular disorders (NMD) are a heterogeneous group of genetic conditions, with autosomal dominant, recessive, or X-linked inheritance. They are characterized by progressive muscle degeneration and weakness. Here, we are presenting our major contributions to the field during the past 30 years. We have mapped and identified several novel genes re
Genet. Mol. Biol.. Publicado em: 2016-09
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4. X-linked adrenal hypoplasia congenita: clinical and follow-up findings of two kindreds, one with a novel NR0B1 mutation
X-linked adrenal hypoplasia congenita typically manifests as primary adrenal insufficiency in the newborn age and hypogonadotropic hypogonadism in males, being caused by mutations in NR0B1 gene. We present the clinical and follow-up findings of two kindreds with NR0B1 mutations. The proband of kindred A had a diagnosis of primary adrenal insufficiency when h
Arch. Endocrinol. Metab.. Publicado em: 2015-04
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5. Incontinentia pigmenti
Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected, such as the central nervous system, eyes, hair, nails and teeth. The disease has a X-linked dominant inheritance pattern and is usually lethal to male fetuses. The dermatological findings occur in four
An. Bras. Dermatol.. Publicado em: 2014-01
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6. Importance of immune response genes in hemophilia A
Hemophilia A is a disease caused by a deficiency of coagulation factor VIII resulting from genetic inheritance linked to chromosome X. One treatment option is the administration of plasma or recombinant FVIII. However, some patients develop inhibitors or antibodies against this factor. Inhibitors are alloantibodies that bind to the epitope of factor VIII cau
Rev. Bras. Hematol. Hemoter.. Publicado em: 2013
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7. O cromossomo X e a deficiência mental no sexo masculino / The X chromossome and mental retardation on males
Este trabalho teve o objetivo de estimar a frequência de deficiência mental causada por mutações no cromossomo X entre pacientes do sexo masculino, que constituem casos isolados de deficiência mental. A estratégia adotada foi a determinação do padrão de inativação do cromossomo X nas mães dos afetados, com base (a) nas indicações de que desvios
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 20/06/2011
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8. Expression of the disease on female carriers of X-linked lysosomal disorders : a brief review
Most lysosomal diseases (LD) are inherited as autosomal recessive traits, but two important conditions have X-linked inheritance: Fabry disease and Mucopolysaccharidosis II (MPS II). These two diseases show a very different pattern regarding expression on heterozygotes, which does not seem to be explained by the X-inactivation mechanism only. While MPS II he
Publicado em: 2011
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9. Avaliação de manifestações clínicas e laboratoriais em heterozigotas para mucopolissacridose tipo II
Introdução: A maioria das doenças lisossômicas são herdadas como traços recessivos, mas a mucopolissacaridose tipo II (MPS II) é de herança ligada ao cromossomo X. As doenças ligadas ao cromossomo X possuem um importante impacto para as famílias devido ao risco que as heterozigotas apresentam em ter um filho afetado. A maioria das heterozigotas par
Publicado em: 2010
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10. O gene UBE2A (Ubiquitin conjugating enzyme 2 A) e a deficiência mental: triagem de mutações e estudos funcionais / UBE2A (Ubiquitin conjugating enzyme 2 A) gene and mental retardation: search for mutations and functional studies
Em trabalho anterior, identificamos a mutação c.382C8594;T no gene UBE2A, localizado em Xq24 e codificador de enzima conjugadora de ubiquitina, como causa de nova síndrome de deficiência mental (DM) de herança ligada ao cromossomo X. Foi a primeira descrição de mutação nesse gene e a primeira associação de mutação em gene que codifica conjugase
Publicado em: 2010
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11. Desenvolvimento de marcador molecular para resistência a Tobacco mosaic virus e herança da resistência a Meloidogyne incognita raça 3 em tabaco / Development of molecular marker for resistance to Tobacco mosaic virus and heredity of resistance to Meloidogyne incognita race 3 in tobacco
The aim of this study is to develop a molecular marker linked to the resistant gene to Tobacco mosaic virus (TMV) considering the necessity to improve plant breeding to meet growing demands of productivity. The other goal of this study is to evaluate the mode of inheritance of an F2 segregating population and backcross (BCF1) population of Meloidogyne incogn
Publicado em: 2008
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12. Mapeamento e validação de QTLs de resistência ao nematóide de cisto da soja / Mapping and validation of QTLs for resistance to soybean cyst nematode
To study soybean (Glycine max (L.) Merrill) resistance to the cyst nematode - NCS (Heterodera glycines Ichinohe) and to help the implantation of the marker assisted selection in breeding programs, the present work was carried with the following objectives: (a) to study the inheritance of resistance to the races 3, 9 and 14 of NCS in different populations; (b
Publicado em: 2006