Abstract Background The loss of ovarian function in women, referred to as premature insufficiency (POI), is associated with a series concomitant diseases. POI genetically heterogeneous, and most cases, the etiology unknown. Methods Whole-exome sequencing (WES) was performed on DNA samples obtained from patients POI, Sanger used validate detected potentially pathogenic variants. An silico analysis carried out predict pathogenicity Results We recruited 24 identified variants POI-related genes...

Abstract Background Oligoasthenoteratozoospermia (OAT) is one of the most complex aggregators male gametic problems. However, genetic etiology OAT still largely unknown. Objectives To reveal new factors responsible for infertility owning to and outcomes affected patients from intracytoplasmic sperm injection (ICSI). Materials methods Two infertile men with typical were recruited in 2018 retrospected a cohort that included 47 2013 2021. Fifty healthy proven fertility served as control...

Valsa canker, caused by the fungus mali, is one of most destructive diseases apple in primary production areas China and other East Asian countries. Currently, there are no effective control methods for this disease. We investigated occurrence canker 24 orchards Shaanxi Province concert with foliar nutrient analysis, found that was a significant negative correlation leaf potassium (K) content incidence severity canker. Fertilization experiments showed increasing tree K enhanced resistance to...

Acephalic spermatozoa, characterized by the headless sperm in ejaculate, is a rare type of teratozoospermia. Here, we recruited two infertile patients with an acephalic spermatozoa phenotype to investigate genetic pathology spermatozoa. Whole-exome sequencing analysis was performed and found mutations CEP112 patients: homozygous mutation c.496C > T:p.(Arg166X) exon 5 from P1; biallelic c.2074C T:p.(Arg692Trp) 20 c.2104C T:p.(Arg702Cys) P2. Sanger confirmed patients. In silico revealed that...

Abstract Background Multiple morphological abnormalities of the sperm flagella (MMAF) is one kind severe asthenozoospermia, which caused by dysplastic development flagella. In our study, we sought to investigate novel gene mutations leading asthenozoospermia and MMAF. Methods Materials The patient's spermatozoa were tested Papanicolaou staining transmission electron microscopy. Whole exome sequencing was performed on patient with Sanger verified in family. expression DNAH17 detected...

The aims of this study were to investigate the biocontrol effects Penicillium griseofulvum strain CF3 and its mechanisms against soil‐borne root pathogens (Fusarium oxysporum Sclerotium rolfsii) medical plant Aconitum carmichaelii Debx. P. evaluated with regard hyphal growth S. rolfsii F. oxysporum, sclerotial formation germination expression sclerotia‐formation‐related genes. A field experiment was conducted explore how controls severity diseases, promotes A. plants mediates shifts in...

Abstract Background Acephalic spermatozoa is an extremely rare type of teratozoospermia that associated with male infertility. Several genes have been reported to be relevant acephalic spermatozoa. Thus, more genetic pathogenesis needs explored. Methods Whole‐exome sequencing was performed in a patient Then Sanger used for validation the and his family. The patient's sample observed by papanicolaou staining transmission electron microscopy. Western blot immunofluorescence were detect level...

Asthenozoospermia is the most common cause of male infertility. Dynein protein arms play a crucial role in motility both cilia and flagella, defects these proteins generally impair axoneme structure primary ciliary dyskinesia. But relatively little known about influence dynein arm on sperm flagella function. Here, we recruited 85 infertile patients with idiopathic asthenozoospermia identified bi-allelic mutations DNAH7 (NM_018897.3) from three using whole-exome sequencing. These variants are...

Leaf abscission of Cyclocarya paliurus stem segments in vitro is very serious, and more than 90% the leaves gradually fall off with prolonged culture time, which hinders breeding. This study investigated molecular mechanism leaf abscission. The emerged C. were cultured for 22 days (T0) vitro; at 27 (T1) that had fallen after ≥ 32 (T2) used as materials analysis physiological characteristics transcriptome data. During process paliurus, Indole-3-acetic acid (IAA) content decreased, whereas...

// Siyuan Yan 1, 3 , Xiaoli Wei 2 Shanshan Xu Hui Sun Weijun Wang Ling Liu 1 Xuejun Jiang Yongxiang Zhang and Yongsheng Che State Key Laboratory of Mycology, Institute Microbiology, Chinese Academy Sciences, Beijing 100101, China Toxicology & Medical Countermeasures, Pharmacology Toxicology, 100850, University 100039, Correspondence to: Che, email: cheys@im.ac.cn Zhang, zhangyx@bmi.ac.cn Keywords: PFKFB3, glycolysis, nuclear localization, autophagy, AMPK Received: June 06,...

Male patients with multiple morphological abnormalities of the sperm flagella (MMAF) are infertile and exhibit absent, short, coiled, bent and/or irregular flagella. Mutations in SPEF2 gene reduce motility cause tail defects animal models humans. In present study, we performed a genetic analysis on an MMAF patient identified novel biallelic mutations gene. The were confirmed by Sanger sequencing silico revealed that, these variations deleterious. expression truncated protein was reduced...

Alfalfa, as a high-quality forage resource, has high nutritional value. Due to the phenotypic similarity among its varieties and susceptibility environmental influences, challenges are encountered in variety identification breeding. In this study, 23 simple sequence repeat (SSR) markers were screened distinguish 49 alfalfa varieties, which 21 SSR showed polymorphic fragments. The results indicated that these highly polymorphic, with an average of 5.91 alleles per marker locus information...

Acephalic spermatozoa syndrome is a rare type of teratozoospermia that severely impairs the reproductive ability male patients, and genetic defects have been recognized as main cause acephalic syndrome. Spermatogenesis centriole-associated 1 like (SPATC1L) indispensable for maintaining integrity sperm head-to-tail connections in mice, but its roles human early embryonic development remain largely unknown. Herein, we conducted whole-exome sequencing (WES) 22 infertile men with An silico...

The relationship between performance on information processing efficiency measures and MRI‐derived lesion volume including global regional T2 T1 volumes was investigated in 20 patients with relapsing–remitting multiple sclerosis (RRMS) secondary progressive (SPMS). Processing speed, as measured by the Sternberg Memory Scanning Test, significantly correlated posterior fossa slowed reaction time seven out of eight (six SPMS) any suggesting a ‘threshold effect’. capacity Salthouse Keeping Track...

The zona pellucida (ZP) of human oocytes plays essential protective roles in sperm-egg interactions during fertilisation and embryo development. ZP4-null female rabbits exhibit a thin irregular ZP, which severely impairs development fertility. However, the effects ZP4 defect on reproduction remain unknown.We performed whole-exome sequencing 26 patients with abnormal (thin irregular) ZP identified heterozygous variants (OMIM: 613514) from 3 (approximately 11%). No variant was found 30 control...

Asthenozoospermia is the most common cause of male infertility. Dynein protein arms play a crucial role in motility sperm flagella and defects these proteins generally impair axoneme structure affect function. In this study, we performed whole exome sequencing for cohort 126 infertile patients with asthenozoospermia identified homozygous DNALI1 mutation one patient from consanguineous family. This was verified by Sanger sequencing. silico analysis showed that very rare, highly pathogenic,...

Acephalic spermatozoa syndrome is a rare type of teratozoospermia, but its pathogenesis largely unknown. Here, we performed whole-exome sequencing for 34 patients with acephalic and identified pathogenic variants in the X-linked gene, ACTRT1 , two patients. Sanger confirmed Both were highly conserved, silico analysis revealed that they deleterious rare. Actrt1 -knockout mice exhibited similar phenotype. Therefore, speculated mutations account syndrome. Moreover, this study conceived their...

Oligo-astheno-teratozoospermia (OAT) is a common cause of male infertility, and most idiopathic OAT patients are thought to be caused by genetic defects. Here, we recruited 38 primary infertile with the phenotype 40 adult men proven fertility for analysis identified biallelic mutations KATNAL2 whole-exome sequencing in two cases. F013/II:1, from consanguineous family, carried c.328C > T:p.Arg110X homozygous mutations. The other c.55A G: p.Lys19Glu c.169C T: p Arg57Trp None variants were...

NMDARs (N-methyl-D-aspartate receptors) mediate the predominantly excitatory neurotransmission in CNS (central nervous system). Excessive release of glutamate and overactivation during brain ischemia hypoxia process are causally linked to excitotoxicity neuronal damage. GluN3 subunits, third member NMDAR family with two isoforms, GluN3A GluN3B, have been confirmed display an inhibitory effect on activity. However, subunits is not clearly understood. In present study, influence subunit...

Owing to less than 1% of motile spermatozoa in the ejaculated semen, severe asthenozoospermia is a serious threat male reproductive health. Herein, we identified novel homozygous variant CCDC9 (NC_000019.9: g.47763960C>T, NM_015603.3, NP_056418.1: p. Ser109Leu) patient from consanguineous family. The was highly pathogenic and predicted be candidate gene for through silico analysis. protein levels were significantly low its morphology ultrastructure severely damaged containing variant....