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LIM homeobox 4

LHX4
This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor involved in the control of differentiation and development of the pituitary gland. Mutations in this gene cause combined pituitary hormone deficiency 4. [provided by RefSeq, Dec 2010] (from NCBI)
Top mentioned proteins: Lhx3, Pit-1, LIM, CAN, SOX3
Papers on LHX4
Recent advances in central congenital hypothyroidism.
Review
New
Dattani et al., London, United Kingdom. In J Endocrinol, Dec 2015
Genetic ascertainment is possible in a minority of cases and reveals mutations in genes controlling the TSH biosynthetic pathway (TSHB, TRHR, IGSF1) in isolated TSH deficiency, or early (HESX1, LHX3, LHX4, SOX3, OTX2) or late (PROP1, POU1F1) pituitary transcription factors in combined hormone deficits.
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.
New
Italian Study Group on Genetics of CPHD et al., Novara, Italy. In Clin Endocrinol (oxf), Dec 2015
The PROP1, POU1F1, HESX1, LHX3 and LHX4 genes were analysed for the presence of mutations using direct sequencing.
Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency.
New
Ruchała et al., Poznań, Poland. In J Appl Genet, Dec 2015
The major contributors are the PROP1, POU1F1, LHX3, LHX4 and HESX1 genes coding transcription factors implicated in pituitary organogenesis.
Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation.
New
Dattani et al., London, United Kingdom. In J Clin Endocrinol Metab, Jun 2015
BACKGROUND: LHX4 encodes a member of the LIM-homeodomain family of transcription factors that is required for normal development of the pituitary gland.
Lhx4 deficiency: increased cyclin-dependent kinase inhibitor expression and pituitary hypoplasia.
New
Camper et al., Ann Arbor, United States. In Mol Endocrinol, Apr 2015
Defects in the Lhx4, Lhx3, and Pitx2 genes can cause combined pituitary hormone deficiency and pituitary hypoplasia in both humans and mice.
Impact of mineralocorticoid receptor polymorphisms on urinary electrolyte excretion with and without diuretic drugs.
Vormfelde et al., Göttingen, Germany. In Pharmacogenomics, 2015
This polymorphism explained 5-10% of the functional variation and in vitro, rs3857080 affected DNA binding of the transcription factor LHX4. CONCLUSION: rs3857080 may be a promising new candidate for research in cardiac and renal disorders and on antialdosteronergic drugs like spironolactone.
Genetic Defects in Thyroid Hormone Supply
Review
Macchia et al., Madagascar. In Unknown Journal, 2015
This situation can be determined by alterations in genes involved in ontogeny of the thyroid, including PIT1 and PRPO1, HESX1, LHX3, LHX4 and SOX3 as well as by mutation in the TSH-beta or in the immunoglobulin superfamily member 1 (IGSF1) genes.
Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue.
Castinetti et al., Marseille, France. In Plos One, 2014
LHX4 is a LIM homeodomain transcription factor involved in the early steps of pituitary ontogenesis.
Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib.
Ogata et al., Tokyo, Japan. In Endocr J, 2014
GNAS mutation was not identified, and neither mutation nor copy number variation was detected in GH1, POU1F1, PROP1, GHRHR, LHX3, LHX4, and HESX1 in the twins.
Pituitary development: a complex, temporal regulated process dependent on specific transcriptional factors.
Review
Ortiga-Carvalho et al., Rio de Janeiro, Brazil. In J Endocrinol, 2012
Pituitary organogenesis is a highly complex and tightly regulated process that depends on several transcription factors (TFs), such as PROP1, PIT1 (POU1F1), HESX1, LHX3 and LHX4.
Panhypopituitarism presenting as life-threatening heart failure caused by an inherited microdeletion in 1q25 including LHX4.
GeneRIF
Szinnai et al., Basel, Switzerland. In Pediatrics, 2012
Variably penetrant pituitary insufficiency, including this severe and atypical presentation, can be correlated with LHX4 insufficiency and highlights the role of LHX4 for pituitary development.
Genetic disorders of the pituitary.
Review
Cohen, Boston, United States. In Curr Opin Endocrinol Diabetes Obes, 2012
RECENT FINDINGS: Novel mutations have been found in transcription factors involved in pituitary development, HESX1; LHX3; LHX4; SOX3; Prophet of Pit-1; and POU1FI, and in some of the signaling molecules expressed in the ventral diencephalon (fibroblast growth factor 8 and GLI2).
Structural basis for partial redundancy in a class of transcription factors, the LIM homeodomain proteins, in neural cell type specification.
GeneRIF
Matthews et al., Sydney, Australia. In J Biol Chem, 2012
X-ray crystal- and small-angle x-ray scattering-derived solution structures of an Lhx4.Isl2 complex exhibit many similarities with that of Lhx3.Isl1; structural differences supported by mutagenic studies reveal differences in the mechanisms of binding.
Downregulation of alpha-fetoprotein expression by LHX4: a critical role in hepatocarcinogenesis.
GeneRIF
Lee et al., Taipei, Taiwan. In Carcinogenesis, 2011
data indicate that LHX4 may act as a potential tumor suppressor in hepatocarcinogenesis, suggesting that targeting LHX4 to downregulate AFP might have therapeutic implications
Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms.
GeneRIF
Brue et al., France. In Eur J Endocrinol, 2011
A novel HESX1 causative mutation was found in a consanguineous family, and two LHX4 mutations were present in familial Pituitary stalk interruption syndrome.
Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency.
Review
Klammt et al., Leipzig, Germany. In Best Pract Res Clin Endocrinol Metab, 2011
Mutations within the genes encoding for the transcription factors LHX3, LHX4, PROP1, and POU1F1 (PIT1) that act at different stages of pituitary development result in unique patterns of hormonal deficiencies reflecting their differential expression during organogenesis.
A coding SNP of LHX4 gene is associated with body weight and body length in bovine.
GeneRIF
Wang et al., China. In Mol Biol Rep, 2010
The animals with genotype GA had greater body weight than those with genotype GG (P < 0.05); the animals with GA genotype owned significantly longer body length than the ones with GG genotype (P < 0.05) at 18 and 24 months.
A LIM-homeodomain combinatorial code for motor-neuron pathway selection.
Impact
Thomas et al., San Diego, United States. In Nature, 1999
Here we study two members of this gene family in Drosophila, namely lim3, the homologue of the vertebrate Lhx3 and Lhx4 genes, and islet, the homologue of the vertebrate Isl1 and Is12 genes.
LIM homeodomain factors Lhx3 and Lhx4 assign subtype identities for motor neurons.
Impact
Pfaff et al., Los Angeles, United States. In Cell, 1999
We show that LIM homeodomain factors Lhx3 and Lhx4 are expressed transiently in motor neurons whose axons emerge ventrally from the neural tube (v-MN).
Multistep control of pituitary organogenesis.
Impact
Westphal et al., Bethesda, United States. In Science, 1998
Lhx3 and Lhx4 (Gsh4), two closely related LIM homeobox genes, determine formation of the pituitary gland in mice.
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