Search Results - "Carvalho, Luciani R."

Central adrenal insufficiency: who, when, and how? From the evidence to the controversies – an exploratory review by Bitencourt, Mariana Rechia, Batista, Rafael Loch, Biscotto, Isabela, Carvalho, Luciani R.

“…Central adrenal insufficiency (CAI) is a life-threatening disorder. This occurs when ACTH production is insufficient, leading to low cortisol levels. Since…”
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Standardizing CRISPR-Cas13 knockdown technique to investigate the role of cdh2 gene in pituitary development through growth hormone expression and transcription factors by Ventura Fernandes, Bianca Helena, Junqueira, Mara S, MacRae, Calum, Silveira de Carvalho, Luciani R

“…Congenital hypopituitarism (CH) is characterized by the deficiency of pituitary hormones. Among CH patients, 85% lack a molecular diagnosis. Whole Exome…”
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Novel Heterozygous Nonsense GLI2 Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly by França, Marcela M, Jorge, Alexander A. L, Carvalho, Luciani R. S, Costalonga, Everlayny F, Vasques, Gabriela A, Leite, Claudia C, Mendonca, Berenice B, Arnhold, Ivo J. P

“…Context: GLI2 is a transcription factor downstream in Sonic Hedgehog signaling, acting early in ventral forebrain and pituitary development. GLI2 mutations…”
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Role of GLI2 in hypopituitarism phenotype by Arnhold, Ivo J P, França, Marcela M, Carvalho, Luciani R, Mendonca, Berenice B, Jorge, Alexander A L

“…GLI2 is a zinc-finger transcription factor involved in the Sonic Hedgehog pathway. Gli2 mutant mice have hypoplastic anterior and absent posterior pituitary…”
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The phenotypic spectrum associated with OTX2 mutations in humans by Gregory, Louise C, Gergics, Peter, Nakaguma, Marilena, Bando, Hironori, Patti, Giuseppa, McCabe, Mark J, Fang, Qing, Ma, Qianyi, Ozel, Ayse Bilge, Li, Jun Z, Poina, Michele Moreira, Jorge, Alexander A L, Benedetti, Anna F Figueredo, Lerario, Antonio M, Arnhold, Ivo J P, Mendonca, Berenice B, Maghnie, Mohamad, Camper, Sally A, Carvalho, Luciani R S, Dattani, Mehul T

“…Objective The transcription factor OTX2is implicated in ocular, craniofacial, and pituitary development. Design We aimed to establish the contribution of OTX2…”
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Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery by Correa, Fernanda A, Nakaguma, Marilena, Madeira, João L O, Nishi, Mirian Y, Abrão, Milena G, Jorge, Alexander A L, Carvalho, Luciani R, Arnhold, Ivo J P, Mendonça, Berenice B

“…The first description of patients with combined pituitary hormone deficiencies (CPHD) caused by PROP1 mutations was made 20 years ago. Here we updated the…”
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Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center by Otto, Aline P., França, Marcela M., Correa, Fernanda A., Costalonga, Everlayny F., Leite, Claudia C., Mendonca, Berenice B., Arnhold, Ivo J. P., Carvalho, Luciani R. S., Jorge, Alexander A. L.

“…Background Children initially diagnosed with isolated GH deficiency (IGHD) have a variable rate to progress to combined pituitary hormone deficiency (CPHD)…”
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Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly by França, Marcela M., Jorge, Alexander A. L., Carvalho, Luciani R. S., Costalonga, Everlayny F., Otto, Aline P., Correa, Fernanda A., Mendonca, Berenice B., Arnhold, Ivo J. P.

“…Summary Objective GLI2 is a downstream transcription factor in Sonic Hedgehog signalling, acting early in ventral forebrain and pituitary development…”
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Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders by Ferreira, Nathalia G B P, Madeira, Joao L O, Gergics, Peter, Kertsz, Renata, Marques, Juliana M, Trigueiro, Nicholas S S, Benedetti, Anna Flavia Figueredo, Azevedo, Bruna V, Fernandes, Bianca H V, Bissegatto, Debora D, Biscotto, Isabela P, Fang, Qing, Ma, Qianyi, Ozel, Asye B, Li, Jun, Camper, Sally A, Jorge, Alexander A L, Mendonça, Berenice B, Arnhold, Ivo J P, Carvalho, Luciani R

“…Context Congenital hypopituitarism is a genetically heterogeneous condition. Whole exome sequencing (WES) is a promising approach for molecular diagnosis of…”
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An activating mutation in the CRHR1 gene is rarely associated with pituitary-dependent hyperadrenocorticism in poodles by De-Marco, Viviani, Carvalho, Luciani R., Guzzo, Mariana F., Oliveira, Paulo S.L., Gomes, Larissa G., Mendonca, Berenice B.

“…Pituitary-dependent hyperadrenocorticism is the most common cause of naturally occurring hypercortisolism in dogs. CRHR1 expression in human and dog…”
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Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency by França, Marcela M, Jorge, Alexander A. L, Alatzoglou, Kyriaki S, Carvalho, Luciani R. S, Mendonca, Berenice B, Audi, Laura, Carrascosa, Antonio, Dattani, Mehul T, Arnhold, Ivo J. P

“…Context: Although numerous reports of mutations in GH1 and GHRHR (GHRH receptor) causing isolated GH deficiency (IGHD) have been published, mutations in GHRH…”
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Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing by Correa, Fernanda A, França, Marcela M, Fang, Qing, Ma, Qianyi, Bachega, Tania A, Rodrigues, Andresa, Ozel, Bilge A, Li, Jun Z, Mendonca, Berenice B, Jorge, Alexander A L, Carvalho, Luciani R, Camper, Sally A, Arnhold, Ivo J P

“…Isolated growth hormone deficiency (IGHD) is the most common pituitary hormone deficiency and, clinically, patients have delayed bone age. High sequence…”
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Androgen receptor mRNA analysis from whole blood: a low‐cost strategy for detection of androgen receptor gene splicing defects by Silva, Juliana M., Batista, Rafael Loch, De Santi Rodrigues, Andresa, Nishi, Mirian Y., Costa, Elaine M.F., Domenice, Sorahia, Carvalho, Luciani R.S., Mendonca, Berenice B.

“…Androgen insensitivity syndrome (AIS) is caused by defects in the androgen receptor (AR) gene and is the most common aetiology of 46,XY disorders of sex…”
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PROP1 and CTNNB1 expression in adamantinomatous craniopharyngiomas with or without β-catenin mutations by Cani, Carolina M.G., Matushita, Hamilton, Carvalho, Luciani R.S., Soares, Ibere C., Brito, Luciana P., Almeida, Madson Q., Mendonça, Berenice B.

“…Activating mutations in exon 3 of the β-catenin gene are involved in the pathogenesis of adamantinomatous craniopharyngiomas. Recently, the interaction between…”
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Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR by Nakaguma, Marilena, Correa, Fernanda A, Santana, Lucas S, Benedetti, Anna F F, Perez, Ricardo V, Huayllas, Martha K P, Miras, Mirta B, Funari, Mariana F A, Lerario, Antonio M, Mendonca, Berenice B, Carvalho, Luciani R S, Jorge, Alexander A L, Arnhold, Ivo J P

“…Aim Congenital hypopituitarism has an incidence of 1:3500–10,000 births and is defined by the impaired production of pituitary hormones. Early diagnosis has an…”
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PROP1 overexpression in corticotrophinomas: evidence for the role of PROP1 in the maintenance of cells committed to corticotrophic differentiation by Araujo, Ricardo V, Chang, Claudia V, Cescato, Valter A.S., Fragoso, Maria Candida B.V., Bronstein, Marcello D, Mendonca, Berenice B, Arnhold, Ivo J.P., Carvalho, Luciani R S

“…The expression of transcription factors involved in early pituitary development, such as PROP1 and POU1F1, has been detected in pituitary adenoma tissues. In…”
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Modular Label-Free Electrochemical Biosensor Loading Nature-Inspired Peptide toward the Widespread Use of COVID-19 Antibody Tests by Castro, Ana C. H., Bezerra, Ítalo R. S., Pascon, Aline M., da Silva, Gabriela H., Philot, Eric A., de Oliveira, Vivian L., Mancini, Rodrigo S. N., Schleder, Gabriel R., Castro, Carlos E., de Carvalho, Luciani R. S., Fernandes, Bianca H. V., Cilli, Eduardo M., Sanches, Paulo R. S., Santhiago, Murilo, Charlie-Silva, Ives, Martinez, Diego S. T., Scott, Ana L., Alves, Wendel A., Lima, Renato S.

“…Limitations of the recognition elements in terms of synthesis, cost, availability, and stability have impaired the translation of biosensors into practical…”
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Rederivation of a mutant line (prop 1) of zebrafish Danio rerio infected with Pseudoloma neurophilia using in vitro fertilization with eggs from pathogen‐free wild‐type (AB) females and sperm from prop 1 males by Ventura Fernandes, Bianca H., Caetano da Silva, Caroline, Bissegato, Debora, Kent, Michael L., Carvalho, Luciani R.

“…Along with the growing number of laboratories that work with zebrafish (Danio rerio), it is necessary to have animals with good sanitary quality. Specific…”
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HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype by Fang, Qing, Benedetti, Anna Flavia Figueredo, Ma, Qianyi, Gregory, Louise, Li, Jun Z., Dattani, Mehul, Sadeghi-Nejad, Abdollah, Arnhold, Ivo J.P., Mendonca, Berenice Bilharinho, Camper, Sally A., Carvalho, Luciani R.

“…Summary Introduction Mutations in the transcription factor HESX1 can cause isolated growth hormone deficiency (IGHD) or combined pituitary hormone deficiency…”
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Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations by Madeira, Joao LO, Nishi, Mirian Y, Nakaguma, Marilena, Benedetti, Anna F, Biscotto, Isabela Peixoto, Fernandes, Thamiris, Pequeno, Thiago, Figueiredo, Thalita, Franca, Marcela M, Correa, Fernanda A, Otto, Aline P, Abrão, Milena, Miras, Mirta B, Santos, Silvana, Jorge, Alexander AL, Costalonga, Everlayny F, Mendonca, Berenice B, Arnhold, Ivo JP, Carvalho, Luciani R

“…Summary Background Mutations in PROP1, HESX1 and LHX3 are associated with combined pituitary hormone deficiency (CPHD) and orthotopic posterior pituitary lobe…”
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