Výsledky vyhledávání - "Brian M. Little"

Growth Hormone (GH) Insensitivity and Insulin-Like Growth Factor-I Deficiency in Inuit Subjects and an Ecuadorian Cohort: Functional Studies of Two Codon 180 GH Receptor Gene Mutations

Autor: Peng Fang, Brian M. Little, Jaime Guevara-Aguirre, Vivian Hwa, Rose Girgis, Ron G. Rosenfeld, Katherine L. Pratt

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 93:1030-1037

Context: Among more than 250 cases of GH insensitivity syndrome (GHIS) reported to date, the largest cohort was identified in southern Ecuador. In the Ecuadorian GHIS cohort, a sense mutation (GAA > GAG) at codon E180 of GH receptor [GHR (E180sp)] re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bbcf5ad3a2bfd99189966fdb4b95bb5
https://doi.org/10.1210/jc.2007-2022

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IGFBP-3 sensitizes prostate cancer cells to interferon-gamma-induced apoptosis

Autor: Peng Fang, Vivian Hwa, Ron G. Rosenfeld, Brian M. Little

Publikováno v: Growth Hormone & IGF Research. 18:38-46

Objective Insulin-like growth factor binding protein-3 (IGFBP-3) has been shown to exhibit diverse biological actions, including IGF-independent effects on cell growth and cell death. Here we report that IGFBP-3 sensitizes prostate cancer cells to in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29d636a9b182af8ebdf4ce92bfd1cd0c
https://doi.org/10.1016/j.ghir.2007.07.002

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Primary Growth Hormone (GH) Insensitivity and Insulin-Like Growth Factor Deficiency Caused by Novel Compound Heterozygous Mutations of the GH Receptor Gene: Genetic and Functional Studies of Simple and Compound Heterozygous States

Autor: Vivian Hwa, Peng Fang, Herwig Frisch, Brian M. Little, Serge Amselem, Ron G. Rosenfeld, Gabriele Haeusler, Stefan Riedl, Katherine L. Pratt

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 92:2223-2231

Primary GH insensitivity (GHI) or Laron syndrome, caused by mutations of the GH receptor (GHR) gene, has a clinical phenotype of postnatal growth failure associated with normal elevated serum concentrations of GH and low serum levels of IGF-I.We inve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d076a53587deaf94176143bbf0cbfb96
https://doi.org/10.1210/jc.2006-2624

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Growth Hormone Insensitivity and Severe Short Stature in Siblings: A Novel Mutation at the Exon 13-Intron 13 Junction of the STAT5b Gene

Autor: Vivian Hwa, Alessia David, Nesrin El-Khatib, Brian M. Little, Martin O. Savage, Ron G. Rosenfeld, Lou Metherell, Cecilia Camacho-Hübner

Publikováno v: Hormone Research in Paediatrics. 68:218-224

Background/Aims: Growth hormone insensitivity (GHI) is characterized by severe short stature, high serum growth hormone (GH), low serum IGF-I and IGFBP-3 levels and is classically associated with genetic defects of the GH receptor (GHR). Recently, mu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::482ca849cd6706a721c7ddeb961b41e0
https://doi.org/10.1159/000101334

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Severe Growth Hormone Insensitivity Resulting from Total Absence of Signal Transducer and Activator of Transcription 5b

Autor: Pelin Adiyaman, Brian M. Little, Eric M. Kofoed, Merih Berberoğlu, Vivian Hwa, Gönül Öcal, Ron G. Rosenfeld, Katherine L. Pratt

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 90:4260-4266

Context: The central clinical feature of GH insensitivity (GHI) is severe growth failure associated with elevated serum concentrations of GH and abnormally low serum levels of IGF-I. GHI can be the result of an abnormality in the GH receptor or aberr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72e4d15f62dc24558937cfa5593dea3e
https://doi.org/10.1210/jc.2005-0515

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Role of leptin and melanocortin signaling in uremia-associated cachexia

Autor: Wai W. Cheung, Roger D. Cone, Daniel L. Marks, Brian M. Little, Robert H. Mak, Pin X. Yu

Publikováno v: Journal of Clinical Investigation. 115:1659-1665

The pathogenesis of cachexia in patients with uremia is unknown. We tested the hypothesis that uremia-associated cachexia is caused by leptin signaling through the hypothalamic melanocortin receptor 4 (MC4-R). We performed either subtotal nephrectomy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db70bdc1efb56d0b10d46b61759d736a
https://doi.org/10.1172/jci22521

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Identification of the first patient with a confirmed mutation of the JAK-STAT system

Autor: Ron G. Rosenfeld, Katherine A. Pratt, Brian M. Little, Liliana Bezrodnik, Juan J. Heinrich, Hector Jasper, Vivian Hwa, Eric M. Kofoed, Caroline K. Buckway, Junko Tsubaki, Alejandro Tepper, Katie A. Woods

Publikováno v: Pediatric Nephrology. 20:303-305

Growth hormone insensitivity (GHI) has been attributable, classically, to mutations in the gene for the GH receptor. After binding to the GH receptor, GH initiates signal transduction through a number of pathways, including the JAK-STAT pathway. We d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd9a05174339c6ec216a4cf4f527ed41
https://doi.org/10.1007/s00467-004-1678-7

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Functional expression of two glucose transporter isoforms from the parasitic protozoan Leishmania enriettii

Autor: Brian M. Little, Chris K. Langford, Scott M. Landfear, Michael P. Kavanaugh

Publikováno v: Journal of Biological Chemistry. 269:17939-17943

The parasitic protozoan Leishmania enriettii contains a family of tandemly repeated genes, designated Pro-1, that encode proteins with significant sequence similarity to mammalian facilitative glucose transporters. Pro-1 mRNAs are expressed almost ex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b5fd6d6075091f03551ea85ac9597f06
https://doi.org/10.1016/s0021-9258(17)32400-6

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Extreme elevation of serum growth hormone-binding protein concentrations resulting from a novel heterozygous splice site mutation of the growth hormone receptor gene

Autor: Brian M. Little, Katherine L. Pratt, Ron G. Rosenfeld, Daisy Chin, Vivian Hwa, Anna M. Aalbers, Stuart J. Frank

Publikováno v: Hormone research. 71(5)

Background/Aims: Circulating growth hormone-binding protein (GHBP), in humans, is the proteolytic product of the growth hormone receptor (GHR). We investigated a prepubertal male subject who was of short stature, but who had a markedly elevated serum

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cf15939ff6c70376c2fd5c4e4debfe8
https://pubmed.ncbi.nlm.nih.gov/19339792

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Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene

Autor: Vivian, Hwa, Cecilia, Camacho-Hübner, Brian M, Little, Alessia, David, Lou A, Metherell, Nesrin, El-Khatib, Martin O, Savage, Ron G, Rosenfeld

Publikováno v: Hormone research. 68(5)

Growth hormone insensitivity (GHI) is characterized by severe short stature, high serum growth hormone (GH), low serum IGF-I and IGFBP-3 levels and is classically associated with genetic defects of the GH receptor (GHR). Recently, mutations of the ST

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::14883c251ef47524dea14560968ebaec
https://pubmed.ncbi.nlm.nih.gov/17389811

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