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https://www.readbyqxmd.com/read/27974186/classical-and-non-classical-causes-of-gh-deficiency-in-the-paediatric-age
#1
REVIEW
Natascia Di Iorgi, Giovanni Morana, Anna Elsa Maria Allegri, Flavia Napoli, Roberto Gastaldi, Annalisa Calcagno, Giuseppa Patti, Sandro Loche, Mohamad Maghnie
Growth hormone deficiency (GHD) may result from a failure of hypothalamic GHRH production or release, from congenital disorders of pituitary development, or from central nervous system insults including tumors, surgery, trauma, radiation or infiltration from inflammatory diseases. Idiopathic, isolated GHD is the most common sporadic form of hypopituitarism. GHD may also occur in combination with other pituitary hormone deficiencies, and is often referred to as hypopituitarism, combined pituitary hormone deficiency (CPHD), multiple pituitary hormone deficiency (MPHD) or panhypopituitarism...
December 2016: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27974184/genetic-causes-of-isolated-and-combined-pituitary-hormone-deficiency
#2
REVIEW
Mara Giordano
Research over the last 20 years has led to the elucidation of the genetic aetiologies of Isolated Growth Hormone Deficiency (IGHD) and Combined Pituitary Hormone Deficiency (CPHD). The pituitary plays a central role in growth regulation, coordinating the multitude of central and peripheral signals to maintain the body's internal balance. Naturally occurring mutation in humans and in mice have demonstrated a role for several factors in the aetiology of IGHD/CPHD. Mutations in the GH1 and GHRHR genes shed light on the phenotype and pathogenesis of IGHD whereas mutations in transcription factors such as HESX1, PROP1, POU1F1, LHX3, LHX4, GLI2 and SOX3 contributed to the understanding of CPHD...
December 2016: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27917547/pituitary-stalk-interruption-syndrome-from-clinical-findings-to-pathogenesis
#3
REVIEW
Cheng-Zhi Wang, Ling-Ling Guo, Bai-Yu Han, Xing Su, Qing-Hua Guo, Yi-Ming Mu
Pituitary stalk interruption syndrome is a rare congenital defect manifesting with varying degrees of pituitary hormone deficiency. The signs and symptoms of PSIS during the neonatal period and infancy are often overlooked and therefore diagnosis is delayed. The typical manifestations of PSIS can be detected by magnetic resonance imaging. Several genes in Wnt, Notch and Shh signaling pathways related to hypothalamic-pituitary development, such as PIT1, PROP1, LHX3/LHX4, PROKR2, OTX2, TGIF and HESX1, have been found to be associated with PSIS...
December 5, 2016: Journal of Neuroendocrinology
https://www.readbyqxmd.com/read/27820671/contribution-of-lhx4-mutations-to-pituitary-deficits-in-a-cohort-of-417-unrelated-patients
#4
Enzo Cohen, Mohamad Maghnie, Nathalie Collot, Juliane Leger, Florence Dastot, Michel Polak, Sophie Rose, Philippe Touraine, Philippe Duquesnoy, Maïté Tauber, Bruno Copin, Anne-Marie Bertrand, Frederic Brioude, Daniela Larizza, Thomas Edouard, Laura González Briceño, Irène Netchine, Isabelle Oliver-Petit, Marie-Laure Sobrier, Serge Amselem, Marie Legendre
CONTEXT: LHX4 encodes a LIM-homeodomain transcription factor implicated in early pituitary development. In humans, only 13 heterozygous LHX4 mutations have been associated with congenital hypopituitarism. OBJECTIVE: To evaluate the prevalence of LHX4 mutations in patients with hypopituitarism, and to precise the associated phenotypes. To characterize the functional impact of the identified variants and the respective role of the two LIM domains of LHX4. PATIENTS AND DESIGN: We screened 417 unrelated patients with isolated growth hormone deficiency or combined pituitary hormone deficiency associated with ectopic posterior pituitary and/or sella turcica anomalies for LHX4 mutations (Sanger sequencing)...
November 7, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27819291/isl1-based-lim-complexes-control-slit2-transcription-in-developing-cranial-motor-neurons
#5
Kyung-Tai Kim, Namhee Kim, Hwan-Ki Kim, Hojae Lee, Hannah N Gruner, Peter Gergics, Chungoo Park, Grant S Mastick, Hae-Chul Park, Mi-Ryoung Song
LIM-homeodomain (HD) transcription factors form a multimeric complex and assign neuronal subtype identities, as demonstrated by the hexameric ISL1-LHX3 complex which gives rise to somatic motor (SM) neurons. However, the roles of combinatorial LIM code in motor neuron diversification and their subsequent differentiation is much less well understood. In the present study, we demonstrate that the ISL1 controls postmitotic cranial branchiomotor (BM) neurons including the positioning of the cell bodies and peripheral axon pathfinding...
November 7, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27487097/long-term-outcomes-genetics-and-pituitary-morphology-in-patients-with-isolated-growth-hormone-deficiency-and-multiple-pituitary-hormone-deficiencies-a-single-centre-experience-of-four-decades-of-growth-hormone-replacement
#6
Julia Rohayem, Hendrik Drechsel, Bettina Tittel, Gabriele Hahn, Roland Pfaeffle, Angela Huebner
BACKGROUND: Growth hormone (GH) has been used to treat children with GH deficiency (GHD) since 1966. AIMS: Using a combined retrospective and cross-sectional approach, we explored the long-term outcomes of patients with GHD, analysed factors influencing therapeutic response, determined persistence into adulthood, investigated pituitary morphology, and screened for mutations in causative genes. METHODS: The files of 96 GH-deficient children were reviewed...
2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27464418/lhx4-gene-alterations-patient-report-and-review-of-the-literature
#7
REVIEW
Zoran Gucev, Velibor Tasic, Dijana Plaseska-Karanfilska, Marina Krstevska Konstantinova, Ana Stamatova, Marija Dimishkovska, Nevenka Laban, Momir Polenakovic
LHX4 mutations are rare in combined pituitary hormone deficiency, and even rarer in isolated GHD. We describe a 14 years old boy who was referred for investigation of short stature. Convergent strabismus, nystagmus was present. At the age of 5 years his gait was unstable. A progressive myopathy ensued. Tests of pituitary reserve showed partial IGHD (8.2 ng/ml). Other pituitary hormones were within normal range. Muscle biopsy showed congenital myopathy of undefined etiology. MRI of the brain revealed the empty sella syndrome...
June 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27401718/whole-transcriptome-analysis-of-chordoma-of-the-skull-base
#8
Diana Bell, Shaan M Raza, Achim H Bell, Gregory N Fuller, Franco DeMonte
Fourteen skull base chordoma specimens and three normal specimens were microdissected from paraffin-embedded tissue. Pools of RNA from highly enriched preparations of these cell types were subjected to expression profiling using whole-transcriptome shotgun sequencing. Using strict criteria, 294 differentially expressed transcripts were found, with 28 % upregulated and 72 % downregulated. The transcripts were annotated using NCBI Entrez Gene and computationally analyzed with the Ingenuity Pathway Analysis program...
October 2016: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/26947989/growth-development-puberty-and-adult-height-of-patients-with-congenital-multiple-pituitary-hormone-deficiencies
#9
Hadar Haim-Pinhas, Rivka Kauli, Pearl Lilos, Zvi Laron
OBJECTIVE: Congenital MPHD is a rare condition caused by mutations in pituitary transcription factors genes: PROP1, POU1F1 (PIT1), HESX1, LHX3, LHX4. DESIGN: We evaluated in a retrospective study the effects on growth and development in 29 patients with congenital MPHD (cMPHD), during hGH replacement therapy alone and combined with sex hormones. Twenty nine patients with cMPHD were included and diagnosed, treated and followed in our clinic from diagnosis to adult age...
April 2016: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/26608600/two-coexisting-heterozygous-frameshift-mutations-in-prop1-are-responsible-for-a-different-phenotype-of-combined-pituitary-hormone-deficiency
#10
K Ziemnicka, B Budny, K Drobnik, D Baszko-Błaszyk, M Stajgis, K Katulska, R Waśko, E Wrotkowska, R Słomski, M Ruchała
The role of genetic background in childhood-onset combined pituitary hormone deficiency (CPHD) has been extensively studied. The major contributors are the PROP1, POU1F1, LHX3, LHX4 and HESX1 genes coding transcription factors implicated in pituitary organogenesis. The clinical consequences of mutations encompass impaired synthesis of a growth hormone (GH) and one or more concurrent pituitary hormones (i.e. LH, FSH, TSH, PRL). Manifestation of the disorder may vary due to various mutation impacts on the final gene products or an influence of environmental factors during pituitary organogenesis...
August 2016: Journal of Applied Genetics
https://www.readbyqxmd.com/read/26416826/recent-advances-in-central-congenital-hypothyroidism
#11
REVIEW
Nadia Schoenmakers, Kyriaki S Alatzoglou, V Krishna Chatterjee, Mehul T Dattani
Central congenital hypothyroidism (CCH) may occur in isolation, or more frequently in combination with additional pituitary hormone deficits with or without associated extrapituitary abnormalities. Although uncommon, it may be more prevalent than previously thought, affecting up to 1:16 000 neonates in the Netherlands. Since TSH is not elevated, CCH will evade diagnosis in primary, TSH-based, CH screening programs and delayed detection may result in neurodevelopmental delay due to untreated neonatal hypothyroidism...
December 2015: Journal of Endocrinology
https://www.readbyqxmd.com/read/26147833/frequency-of-genetic-defects-in-combined-pituitary-hormone-deficiency-a-systematic-review-and-analysis-of-a-multicentre-italian-cohort
#12
REVIEW
Francesca De Rienzo, Simona Mellone, Simonetta Bellone, Deepak Babu, Ileana Fusco, Flavia Prodam, Antonella Petri, Ranjith Muniswamy, Filippo De Luca, Mariacarolina Salerno, Patricia Momigliano-Richardi, Gianni Bona, Mara Giordano
OBJECTIVE: Combined pituitary hormonal deficiency (CPHD) can result from mutations within genes that encode transcription factors. This study evaluated the frequency of mutations in these genes in a cohort of 144 unrelated Italian patients with CPHD and estimated the overall prevalence of mutations across different populations using a systematic literature review. MATERIAL AND METHODS: A multicentre study of adult and paediatric patients with CPHD was performed...
December 2015: Clinical Endocrinology
https://www.readbyqxmd.com/read/25955177/identifying-the-deleterious-effect-of-rare-lhx4-allelic-variants-a-challenging-issue
#13
Claire Rochette, Nicolas Jullien, Alexandru Saveanu, Emmanuelle Caldagues, Ignacio Bergada, Debora Braslavsky, Marija Pfeifer, Rachel Reynaud, Jean-Paul Herman, Anne Barlier, Thierry Brue, Alain Enjalbert, Frederic Castinetti
LHX4 is a LIM homeodomain transcription factor involved in the early steps of pituitary ontogenesis. To date, 8 heterozygous LHX4 mutations have been reported as responsible of combined pituitary hormone deficiency (CPHD) in Humans. We identified 4 new LHX4 heterozygous allelic variants in patients with congenital hypopituitarism: W204X, delK242, N271S and Q346R. Our objective was to determine the role of LHX4 variants in patients' phenotypes. Heterologous HEK293T cells were transfected with plasmids encoding for wild-type or mutant LHX4...
2015: PloS One
https://www.readbyqxmd.com/read/25871839/novel-lethal-form-of-congenital-hypopituitarism-associated-with-the-first-recessive-lhx4-mutation
#14
L C Gregory, K N Humayun, J P G Turton, M J McCabe, S J Rhodes, M T Dattani
BACKGROUND: LHX4 encodes a member of the LIM-homeodomain family of transcription factors that is required for normal development of the pituitary gland. To date, only incompletely penetrant heterozygous mutations in LHX4 have been described in patients with variable combined pituitary hormone deficiencies. OBJECTIVE/HYPOTHESIS: To report a unique family with a novel recessive variant in LHX4 associated with a lethal form of congenital hypopituitarism that was identified through screening a total of 97 patients...
June 2015: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/25843330/growth-hormone-deficiency-in-monozygotic-twins-with-autosomal-dominant-pseudohypoparathyroidism-type-ib
#15
Shinichiro Sano, Hiromi Iwata, Keiko Matsubara, Maki Fukami, Masayo Kagami, Tsutomu Ogata
Pseudohypoparathyroidism (PHP) is associated with compromised signal transductions via PTH receptor (PTH-R) and other G-protein-coupled receptors including GHRH-R. To date, while GH deficiency (GHD) has been reported in multiple patients with PHP-Ia caused by mutations on the maternally expressed GNAS coding regions and in two patients with sporadic form of PHP-Ib accompanied by broad methylation defects of maternally derived GNAS differentially methylated regions (DMRs), it has not been identified in a patient with an autosomal dominant form of PHP-Ib (AD-PHP-Ib) accompanied by an STX16 microdeletion and an isolated loss of methylation (LOM) at exon A/B-DMR...
2015: Endocrine Journal
https://www.readbyqxmd.com/read/25668206/lhx4-deficiency-increased-cyclin-dependent-kinase-inhibitor-expression-and-pituitary-hypoplasia
#16
Peter Gergics, Michelle L Brinkmeier, Sally A Camper
Defects in the Lhx4, Lhx3, and Pitx2 genes can cause combined pituitary hormone deficiency and pituitary hypoplasia in both humans and mice. Not much is known about the mechanism underlying hypoplasia in these mutants beyond generally increased cell death and poorly maintained proliferation. We identified both common and unique abnormalities in developmental regulation of key cell cycle regulator gene expression in each of these three mutants. All three mutants exhibit reduced expression of the proliferative marker Ki67 and the transitional marker p57...
April 2015: Molecular Endocrinology
https://www.readbyqxmd.com/read/25616098/impact-of-mineralocorticoid-receptor-polymorphisms-on-urinary-electrolyte-excretion-with-and-without-diuretic-drugs
#17
RANDOMIZED CONTROLLED TRIAL
Nawar Dalila, Jürgen Brockmöller, Mladen Vassilev Tzvetkov, Markus Schirmer, Martin Haubrock, Stefan Viktor Vormfelde
AIM: Polymorphisms in the mineralocorticoid receptor may affect urinary sodium and potassium excretion. We investigated polymorphisms in the MR gene in relation to urinary electrolyte excretion in two separate studies. PATIENTS & METHODS: The genotype-phenotype association was studied in healthy volunteers after single doses of bumetanide, furosemide, torsemide, hydrochlorothiazide, triamterene and after NaCl restriction. RESULTS: High potassium excretion under all conditions except torsemide, and high NaCl excretion after bumetanide and furosemide were associated with the A allele of the intron-3 polymorphism (rs3857080)...
January 2015: Pharmacogenomics
https://www.readbyqxmd.com/read/25568313/deficiency-of-the-chromatin-regulator-brpf1-causes-abnormal-brain-development
#18
Linya You, Jinfeng Zou, Hong Zhao, Nicholas R Bertos, Morag Park, Edwin Wang, Xiang-Jiao Yang
Epigenetic mechanisms are important in different neurological disorders, and one such mechanism is histone acetylation. The multivalent chromatin regulator BRPF1 (bromodomain- and plant homeodomain-linked (PHD) zinc finger-containing protein 1) recognizes different epigenetic marks and activates three histone acetyltransferases, so it is both a reader and a co-writer of the epigenetic language. The three histone acetyltransferases are MOZ, MORF, and HBO1, which are also known as lysine acetyltransferase 6A (KAT6A), KAT6B, and KAT7, respectively...
March 13, 2015: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/25557026/molecular-screening-of-a-large-cohort-of-moroccan-patients-with-congenital-hypopituitarism
#19
Nabila Fritez, Marie-Laure Sobrier, Hinde Iraqi, Marie-Pierre Vié-Luton, Irène Netchine, Abdessamad El Annas, Jacques Pantel, Nathalie Collot, Sophie Rose, William Piterboth, Marie Legendre, Abdelmjid Chraibi, Serge Amselem, Abdelkrim Kadiri, Latifa Hilal
BACKGROUND/OBJECTIVES: Congenital hypopituitarism is a rare disease which, for most patients, has no identified molecular cause. We aimed to document the molecular basis of growth retardation in a Moroccan cohort. DESIGN/PATIENTS: 80 index cases [54 with isolated growth hormone deficiency (IGHD), 26 with combined pituitary hormone deficiency (CPHD)] were screened for molecular defects in GH1 (including LCR-GH1), GHRHR, GHSR, GHRH, PROP1, POU1F1, HESX1, LHX3, LHX4 and SOX3...
June 2015: Clinical Endocrinology
https://www.readbyqxmd.com/read/25324171/oncogenicity-of-lhx2-in-pancreatic-ductal-adenocarcinoma
#20
Feng Zhou, Shanmiao Gou, Jiongxin Xiong, Heshui Wu, Chunyou Wang, Tao Liu
The LIM proteins (Lhx1, Lhx2, Lhx3 and Lhx4) have been report to play important roles in human development. The function role of Lhxs have been characterized in various tumor tissues as cancer suppressors or promoters in different can status and types. The aim of present study was to clarify the function role of Lhx proteins in human pancreatic ductal adenocarcinoma (PDA). The gene expression profiles of Lhxs was evaluated using real-time quantitative reverse transcriptase-polymerase chain reaction (QRT-PCR) analysis and immunohistochemistry in human PDA tissues compared with normal pancreatic tissues, which identified the gene overexpression of Lhx2 in PDA...
December 2014: Molecular Biology Reports
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