Human Molecular Genetics
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#1Mohan Liu (Sichuan University)H-Index: 4
#2Yihong Yang (Sichuan University)H-Index: 3
Last. Ying Shen (Sichuan University)H-Index: 9
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Nonobstructive azoospermia (NOA) is an important cause of male infertility, and the genetic pathogenesis is still incompletely understood. The previous study reported that heterozygous mutation of c.346-1G > A in SOHLH1 was identified in two NOA patients and suggested it is the pathogenic factor for NOA. However, in our research, this heterozygous mutation was confirmed in three Chinese infertile patients who were suffered from teratozoospermia, but they had normal sperm number. Intriguingly, a ...
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#1Jangampalli Adi Pradeepkiran (TTUHSC: Texas Tech University Health Sciences Center)H-Index: 8
#2Manne Munikumar (NIN: National Institute of Nutrition, Hyderabad)H-Index: 8
Last. P. Hemachandra ReddyH-Index: 72
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The purpose of our study is to understand the protective effects of small molecule ligands for phosphorylated tau (p-tau) in Alzheimer's disease (ad) progression. Many reports show evidence that p-tau is reported to be an important contributor to the formation of paired helical filaments (PHFs) and neurofibrillary tangles (NFTs) in ad neurons. In ad, glycogen synthase kinase-3 beta (GSK3β), cyclin-dependent kinase- 5 (CDK5) and dual specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1...
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#1Fernando Morales (UCR: University of Costa Rica)H-Index: 8
#2Eyleen Corrales (UCR: University of Costa Rica)H-Index: 3
Last. Ralf Krahe (University of Texas MD Anderson Cancer Center)H-Index: 50
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Myotonic dystrophy type 1 (DM1) is a complex disease with a wide spectrum of symptoms. The exact relationship between mutant CTG repeat expansion size and clinical outcome remains unclear. DM1 congenital patients (CDM) inherit the largest expanded alleles, which are associated with abnormal and increased DNA methylation flanking the CTG repeat. However, DNA methylation at the DMPK locus remains understudied. Its relationship to DM1 clinical subtypes, expansion size and age-at-onset is not yet co...
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#1Rongjuan Zhao (CSU: Central South University)H-Index: 4
#2Tengfei Zhu (SEU: Southeast University)
Last. Kun Xia (CSU: Central South University)H-Index: 5
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Contactin 4 (CNTN4) is a crucial synaptic adhesion protein that belongs to the contactin superfamily. Evidence from both human genetics and mouse models suggests that synapse formation and structural deficits strongly correlate with neurodevelopmental disorders, including autism. In addition, several lines of evidence suggest that CNTN4 is associated with the risk of autism. However, the biological functions of CNTN4 in neural development and disease pathogenesis are poorly understood. In this s...
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#1Dantong Li (Southern Medical University)
#2Miaoyue Hu (SYSU: Sun Yat-sen University)
Last. Albert C.M. Ong (University of Sheffield)H-Index: 43
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Nephronophthisis (NPH) is the most prevalent monogenetic disorder leading to end-stage renal failure (ESRD) in childhood. Mutations in Nphp1, encoding a cilia-localized protein, account for the majority of NPH cases. Despite its identification many years ago, Nphp1 deletions targeting exon 4 or exon 20 have not reproduced the histological features of human NPH in murine models. In this study, we deleted exon 2-20 of Nphp1 by CRISPR/Cas9 gene editing to create a near-total knockout (KO) mouse mod...
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#1Penglong Wang (NIH: National Institutes of Health)H-Index: 2
#2Christina A. Castellani (JHUSOM: Johns Hopkins University School of Medicine)H-Index: 14
Last. Xiuqing Guo (Los Angeles Biomedical Research Institute)H-Index: 74
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We conducted cohort- and race-specific epigenome-wide association analyses of mtDNA copy number (mtDNA CN) measured in whole blood from participants of African and European origins in five cohorts (n = 6182, mean age 57-67 years, 65% women). In the meta-analysis of all the participants, we discovered 21 mtDNA CN-associated CpG sites (p < 1 x 10-7), with a 0.7 to 3.0 standard deviation increase (3 CpGs) or decrease (18 CpGs) in mtDNA CN corresponding to a 1% increase in DNA methylation. Several s...
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#1Guohui Zhang (Sichuan University)
#2Dongyan Li (CSU: Central South University)H-Index: 2
Last. Huan ZhangH-Index: 2
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Sperm fibrous sheath is closely related to sperm maturation, capacitation and motility, and A-kinase anchor protein 4 (AKAP4) is the most abundant protein in sperm fibrous sheath. Previous studies found incomplete sperm fibrous sheaths and abnormal flagella in Akap4 knockout (KO) mice. Meanwhile, it was reported that the partial deletion in AKAP4 is highly relevant to the dysplasia of the fibrous sheath in an infertile man, and so far, there is no report about male infertility caused by hemizygo...
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#1Dong-Li Zhu (Xi'an Jiaotong University)H-Index: 7
#2Shi Yao (Xi'an Jiaotong University)H-Index: 6
Last. Ying Cheng (Xi'an Jiaotong University)
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Although more than 80 psoriasis genetic risk loci have been reported through genome-wide association studies (GWASs), the genetic mechanism of psoriasis remains unclear. To identify novel candidate genes associated with psoriasis and reveal the potential effects of genetic factors in the development of psoriasis, we conducted a transcriptome-wide association study (TWAS) based on summary statistics from GWAS of psoriasis (5175 cases and 447 089 controls) and gene expression levels from six tissu...
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#1Ivan Flores (UCLA: University of California, Los Angeles)H-Index: 1
#2Steven S. Welc (IU: Indiana University)H-Index: 12
Last. James G. Tidball (UCLA: University of California, Los Angeles)H-Index: 67
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Leukemia inhibitory factor (LIF) can influence development by increasing cell proliferation and inhibiting differentiation. Because of its potency for expanding stem cell populations, delivery of exogenous LIF to diseased tissue could have therapeutic value. However, systemic elevations of LIF can have negative, off-target effects. We tested whether inflammatory cells expressing a LIF transgene under control of a leukocyte-specific, CD11b promoter provide a strategy to target LIF to sites of dam...
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#1He FangH-Index: 8
#2Xinxian DengH-Index: 15
Last. Christine M. Disteche (UW: University of Washington)H-Index: 78
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The gene content of the X and Y chromosomes has dramatically diverged during evolution. The ensuing dosage imbalance within the genome of males and females has led to unique chromosome-wide regulatory mechanisms with significant and sex-specific impacts on X-linked gene expression. X inactivation or silencing of most genes on one X chromosome chosen at random in females profoundly affects the manifestation of X-linked diseases, as males inherit a single maternal allele, while females express mat...
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Gene
Molecular biology
Mutation
Genetics
Biology
Cell biology