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https://www.readbyqxmd.com/read/28356564/combined-pituitary-hormone-deficiency-due-to-gross-deletions-in-the-pou1f1-pit-1-and-prop1-genes
#1
Eleonore Bertko, Jürgen Klammt, Petra Dusatkova, Mithat Bahceci, Nazli Gonc, Louise Ten Have, Nurgun Kandemir, Georg Mansmann, Barbora Obermannova, Wilma Oostdijk, Heike Pfäffle, Denise Rockstroh-Lippold, Marina Schlicke, Alpaslan Kemal Tuzcu, Roland Pfäffle
Pituitary development depends on a complex cascade of interacting transcription factors and signaling molecules. Lesions in this cascade lead to isolated or combined pituitary hormone deficiency (CPHD). The aim of this study was to identify copy number variants (CNVs) in genes known to cause CPHD and to determine their structure. We analyzed 70 CPHD patients from 64 families. Deletions were found in three Turkish families and one family from northern Iraq. In one family we identified a 4.96 kb deletion that comprises the first two exons of POU1F1...
March 30, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28332357/rare-frequency-of-mutations-in-pituitary-transcription-factor-genes-in-combined-pituitary-hormone-or-isolated-growth-hormone-deficiencies-in-korea
#2
Jin Ho Choi, Chang Woo Jung, Eungu Kang, Yoon Myung Kim, Sun Hee Heo, Beom Hee Lee, Gu Hwan Kim, Han Wook Yoo
PURPOSE: Congenital hypopituitarism is caused by mutations in pituitary transcription factors involved in the development of the hypothalamic-pituitary axis. Mutation frequencies of genes involved in congenital hypopituitarism are extremely low and vary substantially between ethnicities. This study was undertaken to compare the clinical, endocrinological, and radiological features of patients with an isolated growth hormone deficiency (IGHD) or combined pituitary hormone deficiency (CPHD)...
May 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28302169/two-novel-lhx3-mutations-in-patients-with-combined-pituitary-hormone-deficiency-including-cervical-rigidity-and-sensorineural-hearing-loss
#3
Khushnooda Ramzan, Bassam Bin-Abbas, Lolwa Al-Jomaa, Rabab Allam, Mohammed Al-Owain, Faiqa Imtiaz
BACKGROUND: Congenital combined pituitary hormone deficiency (CPHD) is a rare heterogeneous group of conditions. CPHD-type 3 (CPHD3; MIM# 221750) is caused by recessive mutations in LHX3, a LIM-homeodomain transcription factor gene. The isoforms of LHX3 are critical for pituitary gland formation and specification of the anterior pituitary hormone-secreting cell types. They also play distinct roles in the development of neuroendocrine and auditory systems. CASE PRESENTATION: Here, we summarize the clinical, endocrinological, radiological and molecular features of three patients from two unrelated families...
March 16, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28289583/microarray-technology-reveals-potentially-novel-genes-and-pathways-involved-in-non-functioning-pituitary-adenomas
#4
X Qiao, H Wang, X Wang, B Zhao, J Liu
Microarray data of non-functioning pituitary adenomas (NFPAs) were analyzed to disclose novel genes and pathways involved in NFPA tumorigenesis. Raw microarray data were downloaded from Gene Expression Omnibus. Data pre-treatment and differential analysis were conducted using packages in R. Functional and pathway enrichment analyses were performed using package GOs-tats. A protein-protein interaction (PPI) network was constructed using server STRING and Cytoscape. Known genes involved in pituitary adenomas (PAs), were obtained from the Comparative Toxicogenomics Database...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28251550/the-mystery-of-puberty-initiation-genetics-and-epigenetics-of-idiopathic-central-precocious-puberty-icpp
#5
REVIEW
Sofia Leka-Emiri, George P Chrousos, Christina Kanaka-Gantenbein
Puberty is a major developmental stage. Damaging mutations, considered as "mistakes of nature", have contributed to the unraveling of the networks implicated in the normal initiation of puberty. Genes involved in the abnormal hypothalamic-pituitary-gonadal (HPG) axis development, in the normosmic idiopathic hypogonadotropic hypogonadism (nIHH), in the X-linked or autosomal forms of Kallmann syndrome and in precocious puberty have been identified (GNRH1, GNRHR, KISS1, GPR54, FGFR1, FGF8, PROK2, PROKR2, TAC3, TACR3, KAL1, PROK2, PROKR2, CHD7, LEP, LEPR, PC1, DAX1, SF-1, HESX-1, LHX3, PROP-1)...
March 1, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28139974/the-lim-protein-complex-establishes-a-retinal-circuitry-of-visual-adaptation-by-regulating-pax6-%C3%AE-enhancer-activity
#6
Yeha Kim, Soyeon Lim, Taejeong Ha, You-Hyang Song, Young-In Sohn, Dae-Jin Park, Sun-Sook Paik, Joo-Ri Kim-Kaneyama, Mi-Ryoung Song, Amanda Leung, Edward M Levine, In-Beom Kim, Yong Sook Goo, Seung-Hee Lee, Kyung Hwa Kang, Jin Woo Kim
The visual responses of vertebrates are sensitive to the overall composition of retinal interneurons including amacrine cells, which tune the activity of the retinal circuitry. The expression of Paired-homeobox 6 (PAX6) is regulated by multiple cis-DNA elements including the intronic α-enhancer, which is active in GABAergic amacrine cell subsets. Here, we report that the transforming growth factor ß1-induced transcript 1 protein (Tgfb1i1) interacts with the LIM domain transcription factors Lhx3 and Isl1 to inhibit the α-enhancer in the post-natal mouse retina...
January 31, 2017: ELife
https://www.readbyqxmd.com/read/28127622/differential-methylation-of-genes-in-individuals-exposed-to-maternal-diabetes-in-utero
#7
Peng Chen, Paolo Piaggi, Michael Traurig, Clifton Bogardus, William C Knowler, Leslie J Baier, Robert L Hanson
AIMS/HYPOTHESIS: Individuals exposed to maternal diabetes in utero are more likely to develop metabolic and cardiovascular diseases later in life. This may be partially attributable to epigenetic regulation of gene expression. We performed an epigenome-wide association study to examine whether differential DNA methylation, a major source of epigenetic regulation, can be observed in offspring of mothers with type 2 diabetes during the pregnancy (OMD) compared with offspring of mothers with no diabetes during the pregnancy (OMND)...
January 26, 2017: Diabetologia
https://www.readbyqxmd.com/read/27974186/classical-and-non-classical-causes-of-gh-deficiency-in-the-paediatric-age
#8
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
#9
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/27939581/expression-of-terminal-effector-genes-in-mammalian-neurons-is-maintained-by-a-dynamic-relay-of-transient-enhancers
#10
Ho Sung Rhee, Michael Closser, Yuchun Guo, Elizaveta V Bashkirova, G Christopher Tan, David K Gifford, Hynek Wichterle
Generic spinal motor neuron identity is established by cooperative binding of programming transcription factors (TFs), Isl1 and Lhx3, to motor-neuron-specific enhancers. How expression of effector genes is maintained following downregulation of programming TFs in maturing neurons remains unknown. High-resolution exonuclease (ChIP-exo) mapping revealed that the majority of enhancers established by programming TFs are rapidly deactivated following Lhx3 downregulation in stem-cell-derived hypaxial motor neurons...
December 21, 2016: Neuron
https://www.readbyqxmd.com/read/27939218/a-multi-step-transcriptional-and-chromatin-state-cascade-underlies-motor-neuron-programming-from-embryonic-stem-cells
#11
Silvia Velasco, Mahmoud M Ibrahim, Akshay Kakumanu, Görkem Garipler, Begüm Aydin, Mohamed Ahmed Al-Sayegh, Antje Hirsekorn, Farah Abdul-Rahman, Rahul Satija, Uwe Ohler, Shaun Mahony, Esteban O Mazzoni
Direct cell programming via overexpression of transcription factors (TFs) aims to control cell fate with the degree of precision needed for clinical applications. However, the regulatory steps involved in successful terminal cell fate programming remain obscure. We have investigated the underlying mechanisms by looking at gene expression, chromatin states, and TF binding during the uniquely efficient Ngn2, Isl1, and Lhx3 motor neuron programming pathway. Our analysis reveals a highly dynamic process in which Ngn2 and the Isl1/Lhx3 pair initially engage distinct regulatory regions...
February 2, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/27917547/pituitary-stalk-interruption-syndrome-from-clinical-findings-to-pathogenesis
#12
REVIEW
C-Z Wang, L-L Guo, B-Y Han, X Su, Q-H Guo, Y-M Mu
Pituitary stalk interruption syndrome (PSIS) 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 the Wnt, Notch and Shh signalling 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...
January 2017: Journal of Neuroendocrinology
https://www.readbyqxmd.com/read/27820671/contribution-of-lhx4-mutations-to-pituitary-deficits-in-a-cohort-of-417-unrelated-patients
#13
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 that is implicated in early pituitary development. In humans, only 13 heterozygous LHX4 mutations have been associated with congenital hypopituitarism. Objective: The aims of this study were to evaluate the prevalence of LHX4 mutations in patients with hypopituitarism, to define the associated phenotypes, and to characterize the functional impact of the identified variants and the respective role of the 2 LIM domains of LHX4...
January 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27819291/isl1-based-lim-complexes-control-slit2-transcription-in-developing-cranial-motor-neurons
#14
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/27592349/the-promoter-and-multiple-enhancers-of-the-pou4f3-gene-regulate-expression-in-inner-ear-hair-cells
#15
Masatsugu Masuda, Yan Li, Kwang Pak, Eduardo Chavez, Lina Mullen, Allen F Ryan
Few enhancers that target gene expression to inner ear hair cells (HCs) have been identified. Using transgenic analysis of enhanced green fluorescent protein (eGFP) reporter constructs and bioinformatics, we evaluated the control of pou4f3 gene expression, since it is expressed only in HCs within the inner ear and continues to be expressed throughout life. An 8.5-kb genomic DNA fragment 5' to the start codon, containing three regions of high cross-species homology, drove expression in all embryonic and neonatal HCs, and adult vestibular and inner HCs, but not adult outer HCs...
September 3, 2016: Molecular Neurobiology
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
#16
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/27477290/chx10-consolidates-v2a-interneuron-identity-through-two-distinct-gene-repression-modes
#17
Yoanne M Clovis, So Yeon Seo, Ji-Sun Kwon, Jennifer C Rhee, Sujeong Yeo, Jae W Lee, Seunghee Lee, Soo-Kyung Lee
During development, two cell types born from closely related progenitor pools often express identical transcriptional regulators despite their completely distinct characteristics. This phenomenon implies the need for a mechanism that operates to segregate the identities of the two cell types throughout differentiation after initial fate commitment. To understand this mechanism, we investigated the fate specification of spinal V2a interneurons, which share important developmental genes with motor neurons (MNs)...
August 9, 2016: Cell Reports
https://www.readbyqxmd.com/read/27402603/epigenetic-regulation-of-alternative-promoters-and-enhancers-in-progenitor-immature-and-mature-gonadotrope-cell-lines
#18
Jean-Noël Laverrière, David L'Hôte, Laure Tabouy, Anne-Laure Schang, Bruno Quérat, Joëlle Cohen-Tannoudji
Gonadotrope cell identity genes emerge in a stepwise process during mouse pituitary development. Cga, encoding for the α-subunit of TSH, LH, and FSH, is initially detected at E11.5 followed by Gnrhr and steroidogenic factor Sf1 at E13.5, specifying cells engaged in a gonadotrope cell fate. Lhb and Fshb appear at E16.5 and 17.5, respectively, typifying differentiated gonadotrope cells. Using the αT1-1, αT3-1 and LβT2 cell lines recapitulating these stages of gonadotrope differentiation, DNA methylation at Gnrhr and Sf1 was investigated...
October 15, 2016: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/27265866/redundant-mechanisms-are-involved-in-suppression-of-default-cell-fates-during-embryonic-mesenchyme-and-notochord-induction-in-ascidians
#19
Hitoshi Kodama, Yoshimasa Miyata, Mami Kuwajima, Ryoichi Izuchi, Ayumi Kobayashi, Fuki Gyoja, Takeshi A Onuma, Gaku Kumano, Hiroki Nishida
During embryonic induction, the responding cells invoke an induced developmental program, whereas in the absence of an inducing signal, they assume a default uninduced cell fate. Suppression of the default fate during the inductive event is crucial for choice of the binary cell fate. In contrast to the mechanisms that promote an induced cell fate, those that suppress the default fate have been overlooked. Upon induction, intracellular signal transduction results in activation of genes encoding key transcription factors for induced tissue differentiation...
August 1, 2016: Developmental Biology
https://www.readbyqxmd.com/read/27161150/identification-of-stam1-as-a-novel-effector-of-ventral-projection-of-spinal-motor-neurons
#20
Heejin Nam, Seunghee Lee
During spinal cord development, motor neuron (MN) axons exit the spinal cord ventrally, although the molecular basis for this process remains poorly understood. STAM1 and HRS form a complex involved with endosomal targeting of cargo proteins, including the chemokine receptor CXCR4. Interestingly, the absence of CXCR4 signaling in spinal MNs is known to result in improper extension of the axons into the dorsal side of the spinal cord. Here, we report that the MN-specific ISL1-LHX3 complex directly transactivates the Stam1 gene and that STAM1 functions in determining the ventral spinal MN axonal projections...
July 1, 2016: Development
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