Heterozygosis
Mostrando 1-12 de 41 artigos, teses e dissertações.
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1. A two-year follow-up of asfotase alfa replacement in a patient with hypophosphatasia: clinical, biochemical, and radiological evaluation
SUMMARY Hypophosphatasia (HPP) is a rare disease with a high mortality rate in its severe forms. It is caused by mutations within the gene encoding the tissue-nonspecific alkaline phosphatase (TNSALP), an enzyme responsible for bone mineralization. In 2015, the Food and Drug Administration approved the use of asfotase alfa, the first medication showing benef
Arch. Endocrinol. Metab.. Publicado em: 2020-10
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2. Treatment of insomnia with repetitive transcranial magnetic stimulation (rTMS) in a patient with posttraumatic stress disorder (PTSD)
SUMMARY Hypophosphatasia (HPP) is a rare disease with a high mortality rate in its severe forms. It is caused by mutations within the gene encoding the tissue-nonspecific alkaline phosphatase (TNSALP), an enzyme responsible for bone mineralization. In 2015, the Food and Drug Administration approved the use of asfotase alfa, the first medication showing benef
Arch. Clin. Psychiatry (São Paulo). Publicado em: 2020-10
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3. Association between serotonin 2C receptor gene (HTR2C) polymorphisms and psychopathological symptoms in children and adolescents
Serotonin 2C receptors (5HT2C) are involved in serotonin-driven dynamic equilibrium adjustments responsible for homeostatic stability in brain structures that modulate behavior and emotions. Single nucleotide polymorphisms (SNPs) from the serotonin 2C receptor gene (HTR2C) have been associated with several neurological and mental disorders, including abnorma
Braz J Med Biol Res. Publicado em: 14/06/2018
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4. A study of the association of glutathione S-transferase M1/T1 polymorphisms with susceptibility to vitiligo in Egyptian patients
Abstract: Background: The association of glutathione S-transferases M1/T1 (GSTM1/T1) null polymorphisms with vitiligo was proposed in several studies including two Egyptian studies with contradictory results. Objective: The aim here was to assess the association between GSTM1/T1 null polymorphisms and the susceptibility to vitiligo in a larger sample of Eg
An. Bras. Dermatol.. Publicado em: 2018-02
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5. A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents
Abstract Osteogenesis imperfecta (OI) is genetically heterogeneous. Mutations in COL1A1 and COL1A2 are responsible for at least 90% of the cases, which are transmitted in an autosomal dominant manner or are de novo events. We identified a Thai boy with OI whose parents were first cousins. Because the proband was the product of a consanguineous marriage, we h
Genet. Mol. Biol.. Publicado em: 21/09/2017
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6. Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis
This review discusses hemoglobin D-Punjab, also known as hemoglobin D-Los Angeles, one of the most common hemoglobin variants worldwide. It is derived from a point mutation in the beta-globin gene (HBB: c.364G>C; rs33946267) prevalent in the Punjab region, North-western Indian. Hemoglobin D-Punjab can be inherited in heterozygosis with hemoglobin A causing n
Rev. Bras. Hematol. Hemoter.. Publicado em: 2015-04
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7. Modulatory effect of BclI GR gene polymorphisms on the obesity phenotype in Brazilian patients with Cushing's disease
OBJECTIVES: Patients with Cushing's disease exhibit wide phenotypic variability in the severity of obesity, diabetes and hypertension. In the general population, several glucocorticoid receptor genes (NR3C1) and HSD11B1 polymorphisms are associated with altered glucocorticoid sensitivity and/or metabolism, resulting in an increased or reduced risk of an adv
Clinics. Publicado em: 2013-05
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8. Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child
Herein the first molecular diagnosis of a Brazilian child with Shwachman-Diamond Syndrome is reported. A 6-year-old boy was diagnosed with cystic fibrosis at the age of 15 months due to recurrent respiratory infections, diarrhea and therapeutic response to pancreatic enzymes. Three sweat tests were negative. At the age of 5 years, he began to experience pain
Rev. Bras. Hematol. Hemoter.. Publicado em: 2013
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9. Heteroskedasticity for weaning weight of Charolais-Zebu crossbred calves
The objective of the present study was to analyze models with genetic and/or residual heteroskedasticity for genetic evaluation of the weaning weight of Charolais-Zebu crossbred calves. Weaning weight data from 56,965 crossbred calves were analyzed using animal models with different combinations of genetic and residual heteroskedasticity and/or homoskedastic
Revista Brasileira de Zootecnia. Publicado em: 2012-05
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10. Heterozygosis for hemoglobin Porto Alegre identified by a combination of laboratory diagnostic methodologies
Rev. Bras. Hematol. Hemoter.. Publicado em: 2012
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11. SENSIBILIDADE INSULÍNICA E FUNÇÃO DA CÉLULA BETA EM INDIVÍDUOS HETEROZIGÓTICOS PARA UMA MUTAÇÃO NO GENE DO RECEPTOR DO GHRH. / INSULIN SENSITIVITY AND CELL FUNCTION BETA IN A HETEROZYGOUS MUTATION IN THE GHRH RECEPTOR.
GH e o fator de crescimento semelhante à insulina tipo I (IGF-I) apresentam funções sinérgicas sobre a síntese protéica e massa muscular. No tecido adiposo, o GH estimula a lipólise e oxidação lípidica, enquanto o IGF-I estimula a diferenciação dos pré adipócitos em adipócitos. No metabolismo glicídico, GH e IGF-I têm ações opostas, sendo
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 09/05/2011
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12. Paternity in Brazilian goats through the use of DNA microsatellites.
A total of 292 animals from three breeds (Alpine and Saanen dairy breeds, and the Brazilian naturalized breed Moxotó) were genotyped, comprising 276 paternity cases. Statistical analyses were carried out by using TFPGA and CERVUS programs. Heterozygosis ranged from 0.542 (ILSTS005) to 0.825 (INRA006), with an average of 0.717 for all loci. Polymorphic infor
Revista Brasileira de Zootecnia. Publicado em: 2011