Abstract:
:Insulin-like growth factor receptor (IGF-1R) deficiency is a rare form of short stature, and is difficult to clinically diagnose. Targeted next-generation sequencing (NGS) allows for the rapid and inexpensive assessment of short stature. We identified mutations in the pedigree of a Chinese boy with severe short stature using targeted NGS; we then assessed the clinical characteristicsand evaluated the efficacy of growth hormone therapy. NGS analysis revealed a novel heterozygous missense mutation in exon3 (c.926C>T, p.S309L) of the type-I IGF-1R gene in the proband, which was inherited from the mother. The proband, mother and grandfather suffered from severe growth failure. After recombinant human growth hormone therapy, the patient's growth rate increased. The novel missensemutation in IGF-1R (c.926C > T, p.S309L) is associated with severe short stature in Chinese individuals. Targeted NGS may enable efficient diagnosis and genetic consultation of children with short stature.
journal_name
J Genetjournal_title
Journal of geneticsauthors
Yang Y,Huang H,Chen K,Yang L,Xie LL,Xiong T,Wu Xsubject
Has Abstractpub_date
2019-03-01 00:00:00eissn
0022-1333issn
0973-7731journal_volume
98pub_type
杂志文章abstract::Single-nucleotide polymorphisms (SNPs), microsatellites and copy number variation (CNV) were studied on the Y chromosome to understand the paternal origin and phylogenetic relationships for resource protection, rational development and utilization of the domestic Bactrian camel in China. Our sample set consisted of 94...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:
更新日期:2018-03-01 00:00:00
abstract::Genetic correlations of nutrient quality traits including lysine, methionine, leucine, isoleucine, phenylalanine, valine and threonine contents in rapeseed meal were analysed by the genetic model for quantitative traits of diploid plants using a diallel design with nine parents of Brassica napus L. These results indic...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-011-0040-7
更新日期:2011-04-01 00:00:00
abstract::The hepatic lipase plays a central role in the lipid metabolism, catalyzing the hydrolysis of phospholipids, monoglycerides, diglycerides, and triglycerides, and acyl-CoA. It is also implied in the conversion of very low-density lipoprotein and intermediate density lipoprotein to low density lipoproteins. As a consequ...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:
更新日期:2020-03-01 00:00:00
abstract::Negative supercoiling stimulates transcription of many genes. In contrast, transcription of the genes coding for DNA gyrase is subject to a novel mechanism of autoregulation, wherein relaxation of the template DNA stimulates their transcription. Since DNA gyrase is the sole supercoiling activity in the eubacterial cel...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/BF02717907
更新日期:2001-12-01 00:00:00
abstract::Sorghum downy mildew caused by Peronosclerospora sorghi is a major disease of maize and resistance is under the control of polygenes which necessitated identification of quantitative-trait loci (QTLs) for initiating marker-assisted introgression of resistant QTLs in elite susceptible inbred lines. In the present study...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-015-0590-1
更新日期:2015-12-01 00:00:00
abstract::To investigate the role of miR-27b in sheep skeletal muscle development, here we first cloned the sequence of sheep pre-miR-27b, then further investigated its expression pattern in sheep skeletal muscle in vivo, the relationship of miR-27b expression and sheep skeletal muscle satellite cell proliferation and different...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:
更新日期:2018-12-01 00:00:00
abstract::Eucalyptus is an important short rotation pulpy woody plant, grown widely in the tropics. Recently, many genomic programmes are underway leading to the accumulation of voluminous genomic and expressed sequence tag sequences in public databases. These sequences can be utilized for analysis of simple sequence repeats (S...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-008-0003-9
更新日期:2008-04-01 00:00:00
abstract::Esterases are known to play essential role inmetabolism, reproductive physiology and behaviour of Drosophila. Esterases are highly polymorphic enzymes in Drosophila, but the polymorphism of these enzymes is not well studied in Drosophila ananassae. Recent studies on esterase polymorphism in D. ananassae revealed that ...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-017-0814-7
更新日期:2017-09-01 00:00:00
abstract::Some members of hairy/Enhancer-of-split-related gene (HES) family have important effects on axial mesoderm segmentation and the establishment and maintenance of the somite fringe. In fishes, the her6 gene, a member of the HES family, is the homologue of hes1 in mammals and chicken. In this study, the her6 gene and its...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/BF02935327
更新日期:2006-12-01 00:00:00
abstract::Screening of trait-associated molecular markers can be used to enhance the efficiency of selective breeding. Previously, we produced the first high-density genetic linkage map for the mandarin fish (Siniperca chuatsi) and identified 11 quantitative-trait loci significantly associated with growth, of which one is locat...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:
更新日期:2019-06-01 00:00:00
abstract::A rapid decline in temperature poses a major challenge for poikilothermic fish, as their entire metabolism depends on ambient temperature. The gene expression of rainbow trout Oncorhynchus mykiss having undergone such a cold shock (0◦C) was compared to a control (5◦C) in a microarray and quantitative real-time PCR bas...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-017-0811-x
更新日期:2017-09-01 00:00:00
abstract::Genomewide association study (GWAS) is an efficient tool for the detection of SNPs and candidate genes in quantitative traits. Growth rate is an important trait for increasing the meat production in sheep. A total of 96 Baluchi sheep were genotyped using Illumina Ovine SNP50 BeadChip to run a GWAS for an average daily...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:
更新日期:2018-06-01 00:00:00
abstract::Long noncoding RNA (lncRNA) H19, a well-known oncogenic lncRNA, is overexpressed in various cancers. Several studies have investigated the association between polymorphisms in lncRNA H19 and the risk of various cancer types; however, the findings were inconsistent. In this study, we performed a meta-analysis to identi...
journal_title:Journal of genetics
pub_type: 杂志文章,meta分析,评审
doi:
更新日期:2019-09-01 00:00:00
abstract::The six basic generations (two parents, F1, F2 and backcrosses) of 14 crosses developed from nine parents differing in fruits node-1 and fruit orientation were evaluated to decipher the genetics of three quantitative traits (average fruit weight, fruits plant-1 and green fruit yield plant-1) during the rainly season o...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:
更新日期:2019-09-01 00:00:00
abstract::Lhx9 is an LIM (named for the first three proteins in which the domain was found, Lin-11, Isl1 and Mec-3) homeodomain protein involved in development and differentiation of the gonad. In this study, we isolated the full-length Lhx9 and Lhx9α from Andrias davidianus, detected the tissue distribution and analysed the me...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-016-0685-3
更新日期:2016-09-01 00:00:00
abstract::Ulcerative colitis (UC), one of the two clinical subtypes of inflammatory bowel disease is perceived as a potential 'sleeping giant' in the Indian subcontinent. Clinical manifestation is overall believed to be the same across ethnic groups but overwhelming genetics from large European and fewer non-European studies ha...
journal_title:Journal of genetics
pub_type: 杂志文章,评审
doi:
更新日期:2018-12-01 00:00:00
abstract::Metabolic syndrome (MetS) is an inflammatory disorder, in which various cytokines play important role in tilting balance towards disease state. Interleukin-10 (IL-10) is an important antiinflammatory cytokine, but its genetic polymorphisms and serum levels in Indian MetS subjects are unknown. Three IL-10 gene polymorp...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-016-0738-7
更新日期:2017-03-01 00:00:00
abstract::The aetiology of developmental dyslexia (DD) is complex; although candidate genes have been suggested, the molecular mechanism and risk factors remain unknown. The KIAA0319 gene is functionally related to neuronal migration and axon growth, and several studies have examined associations between KIAA0319 polymorphisms ...
journal_title:Journal of genetics
pub_type: 杂志文章,meta分析
doi:
更新日期:2019-06-01 00:00:00
abstract::Rattans, the spiny climbing palms of Arecaceae (Palmae) family exhibit high endemism to the biodiversity hot spots in India. Of the five rattan genera, Calamus is the only genus found in peninsular India with 15 of 21 species, endemic to the Western Ghats. The extensive utilization of rattans owing to their strength, ...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:
更新日期:2019-11-01 00:00:00
abstract::Cupressus gigantea and C. torulosa are ecologically and economically important endemic species of the conifer family Cupressaceae on the Qinghai-Tibetan plateau. C. gigantea was previously classified as a subspecies of C. torulosa because of their similar morphological characteristics and close distribution. In this s...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:
更新日期:2019-03-01 00:00:00
abstract::Molecular characterization of 23 cytogenetically confirmed XY females was attempted by screening coding regions of SRY and androgen receptor (AR) genes. Five of the index cases showed sequence variations in various exons of the AR gene: a deletion (n.1911delG) and substitutions n.1761G>A and n.1317C>T in exon 1; n.351...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-016-0716-0
更新日期:2016-12-01 00:00:00
abstract::This study aimed to investigate whether the genetic variants of CRTC1, BARX1, FOXP1 and FOXF1 are associated with the development of oesophageal adenocarcinoma (OA) in Chinese population. A total of 744 OA patients and 1138 controls were included in this study. Here we genotyped four SNPs, rs10419226 of CRTC1, rs11789...
journal_title:Journal of genetics
pub_type: 杂志文章,多中心研究
doi:
更新日期:2018-03-01 00:00:00
abstract::Amphibian secretion is an important source of bioactive molecules that naturally protect the skin against noxious microorganisms. Collectively called antimicrobial peptides (AMPs), these molecules have a wide spectrum of action, targeting viruses, bacteria and fungi. Like many membrane and secreted proteins, AMPs have...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:
更新日期:2018-12-01 00:00:00
abstract::Angiogenesis is the formation of new blood vessels from pre-existing vasculature. Pathologic angiogenesis in the eye can lead to severe visual impairment. In our review, we discuss the roles of both pro-angiogenic and anti-angiogenic molecular players in corneal angiogenesis, proliferative diabetic retinopathy, exudat...
journal_title:Journal of genetics
pub_type: 杂志文章,评审
doi:10.1007/s12041-009-0068-0
更新日期:2009-12-01 00:00:00
abstract::Nonrandom segregation ratios of alleles 'segregation distortion' can have a striking impact on transmission genetics, and with widespread availability of genetic markers has been shown to be a frequent phenomenon. To investigate the possible effect of genetic interaction on segregation distortion and genetic map const...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:
更新日期:2018-12-01 00:00:00
abstract::Neurodegenerative diseases constitute a large proportion of disorders in elderly, majority being sporadic in occurrence with ∼5-10% familial. A strong genetic component underlies the Mendelian forms but nongenetic factors together with genetic vulnerability contributes to the complex sporadic forms. Several gene disco...
journal_title:Journal of genetics
pub_type: 杂志文章,评审
doi:
更新日期:2018-07-01 00:00:00
abstract::Lack of regulated expression and tissue specificity are the major drawbacks of plant and virus-derived constitutive promoters. A precise tissue or site-specific expression, facilitate regulated expression of proteins at the targeted time and site. Publically available microarray data on whitefly and aphid infested Ara...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:
更新日期:2018-03-01 00:00:00
abstract::The prevalence of genetic variants associated to cutaneous melanoma (CM) has never been determined within Cypriot melanomas. This study evaluates the frequency of variants in cyclin-dependent kinase inhibitor 2A (CDKN2A) and melanocortin-1 receptor (MC1R) in 32 patients diagnosed with CM. Other characteristics and ris...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-017-0742-6
更新日期:2017-03-01 00:00:00
abstract::Insulin-like growth factor 1 (IGF1) plays an important role in growth, reproduction, foetal development and cell proliferation. The present study was conducted to clone and sequence the full-length coding sequence of the caprine IGF1 gene from Attappady Black and Malabari breeds, two indigenous goat breeds of south In...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-017-0762-2
更新日期:2017-06-01 00:00:00
abstract::The development of the DNA theory of inheritance culminated in the publication of the molecular structure of DNA 60 years ago. This paper describes this development, beginning with the discovery of DNA as a chemical substance by Friedrich Miescher in 1869, followed by its basic chemical analysis and demonstration of i...
journal_title:Journal of genetics
pub_type: 历史文章,杂志文章,评审
doi:10.1007/s12041-014-0337-4
更新日期:2014-04-01 00:00:00