0000000000381299

AUTHOR

Jian Ma

showing 3 related works from this author

BMP7 Gene involved in nonsyndromic orofacial clefts in western han Chinese

2015

Background: Nonsyndromic orofacial clefts (NSOCs) are the most common craniofacial birth defects with complex etiology in which multiple genes and environmental exposures are involved. Bone morphogenetic protein 7 (BMP7), as a member of the transforming growth factor-beta (TGF-beta) superfamily, has been shown to play crucial roles in palate and other orofacial ectodermal appendages development in animal models. Material and Methods: This study was designed to investigate the possible associations between BMP7 gene and the NSOCs (221 case-parent trios) in Western Han Chinese. Five tagSNPs at BMP7, rs12438, rs6099486, rs6127973, rs230188 and rs6025469 were picked and tried to cover the entir…

MaleBone Morphogenetic Protein 7Cleft LipGenetic counselingOdontologíaBiologyAsian PeopleHumansCraniofacialRisk factorAlleleGeneral DentistryGeneGeneticsOral Medicine and PathologyResearchBrainTransmission disequilibrium test:CIENCIAS MÉDICAS [UNESCO]Ciencias de la saludCleft PalateBone morphogenetic protein 7OtorhinolaryngologyUNESCO::CIENCIAS MÉDICASEtiologyFemaleSurgeryMedicina Oral Patología Oral y Cirugia Bucal
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New insights from GWAS for the cleft palate among han Chinese population

2016

Background Genome wide association studies (GWAS) already have identified tens of susceptible loci for nonsyndromic cleft lip with or without cleft palate (NSCL/P). However, whether these loci associated with nonsyndromic cleft palate only (NSCPO) remains unknown. Material and Methods In this study, we replicated 38 SNPs (Single nucleotide polymorphisms) which has the most significant p values in published GWASs, genotyping by using SNPscan among 144 NSCPO trios from Western Han Chinese. We performed the transmission disequilibrium test (TDT) on individual SNPs and gene-gene (GxG) interaction analyses on the family data; Parent-of-Origin effects were assessed by separately considering trans…

Male0301 basic medicineSingle-nucleotide polymorphismGenome-wide association studyBiologyPolymorphism Single Nucleotide03 medical and health sciencesAsian PeopleGenotypeHumansAlleleGeneral DentistryGenotypingGeneticsResearchTransmission disequilibrium test:CIENCIAS MÉDICAS [UNESCO]Cleft Palate030104 developmental biologyOtorhinolaryngologyMAFBUNESCO::CIENCIAS MÉDICASEpistasisFemaleSurgeryOral SurgeryGenome-Wide Association Study
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Genome-wide adaptive complexes to underground stresses in blind mole rats Spalax

2014

The blind mole rat (BMR), Spalax galili, is an excellent model for studying mammalian adaptation to life underground and medical applications. The BMR spends its entire life underground, protecting itself from predators and climatic fluctuations while challenging it with multiple stressors such as darkness, hypoxia, hypercapnia, energetics and high pathonecity. Here we sequence and analyse the BMR genome and transcriptome, highlighting the possible genomic adaptive responses to the underground stressors. Our results show high rates of RNA/DNA editing, reduced chromosome rearrangements, an over-representation of short interspersed elements (SINEs) probably linked to hypoxia tolerance, degene…

SpalaxGeneral Physics and AstronomyZoologyBiologyGenomeGeneral Biochemistry Genetics and Molecular BiologyEvolution MolecularHypercapniaTranscriptome03 medical and health sciences0302 clinical medicineStress PhysiologicalMoleAnimalsHypoxiaSpalax galiliShort Interspersed Nucleotide Elements030304 developmental biologyHigh rate0303 health sciencesGenomeMultidisciplinaryGene Expression ProfilingGeneral ChemistryDarknessbiology.organism_classificationAdaptation PhysiologicalEvolutionary biologySpalaxRNA EditingAdaptationTranscriptome030217 neurology & neurosurgeryNature Communications
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