Articles with "multiple morphological" as a keyword



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Phonon Scattering in Silicon by Multiple Morphological Defects: A Multiscale Analysis

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Published in 2018 at "Journal of Electronic Materials"

DOI: 10.1007/s11664-018-6337-z

Abstract: Ideal thermoelectric materials should possess low thermal conductivity $$\kappa $$κ along with high electrical conductivity $$\sigma $$σ. Thus, strategies are needed to impede the propagation of phonons mostly responsible for thermal conduction while only marginally… read more here.

Keywords: scattering silicon; multiple morphological; thermal conductivity; phonon scattering ... See more keywords
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Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.

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Published in 2018 at "American journal of human genetics"

DOI: 10.1016/j.ajhg.2018.03.007

Abstract: The multiple morphological abnormalities of the flagella (MMAF) phenotype is among the most severe forms of sperm defects responsible for male infertility. The phenotype is characterized by the presence in the ejaculate of immotile spermatozoa… read more here.

Keywords: morphological abnormalities; multiple morphological; male infertility; cfap69 ... See more keywords
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Novel mutations in FSIP2 lead to multiple morphological abnormalities of the sperm flagella and poor ICSI prognosis.

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Published in 2021 at "Gene"

DOI: 10.1016/j.gene.2021.145536

Abstract: Multiple morphological abnormalities of the sperm flagella (MMAF) is defined as deformities that cause sperm motility disorders, further resulting in male infertility. However, the reported genes related to sperm flagellar defects can only explain approximately… read more here.

Keywords: morphological abnormalities; abnormalities sperm; sperm flagella; novel mutations ... See more keywords
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The effect of ionomycin-induced oocyte activation on multiple morphological abnormalities of the sperm flagella

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Published in 2023 at "Systems Biology in Reproductive Medicine"

DOI: 10.1080/19396368.2023.2167621

Abstract: Abstract Artificial oocyte activation (AOA) is considered an effective method to improve clinical outcomes in patients with some forms of male factor infertility and does not increase the risk of birth defects. However, the effects… read more here.

Keywords: clinical outcomes; oocyte activation; multiple morphological; abnormalities sperm ... See more keywords
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Novel Biallelic DNAH1 Variations Cause Multiple Morphological Abnormalities of the Sperm Flagella.

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Published in 2021 at "DNA and cell biology"

DOI: 10.1089/dna.2021.0097

Abstract: Sperm motility is vital to human reproduction, and malformed sperm flagella can cause male infertility. Individuals with multiple morphological abnormalities of the flagella mostly have absent, short, coiled, bent, and/or irregular-caliber flagella. In this study,… read more here.

Keywords: morphological abnormalities; novel biallelic; microscopy; sperm flagella ... See more keywords
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Multiple Morphological Factors Underlie Experience-Dependent Cross-Modal Plasticity in the Developing Sensory Cortices.

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Published in 2019 at "Cerebral cortex"

DOI: 10.1093/cercor/bhz248

Abstract: Sensory experience regulates the structural and functional wiring of sensory cortices. In previous work, we showed that whisker deprivation (WD) from birth not only reduced excitatory synaptic transmission of layer (L) 2/3 pyramidal neurons of… read more here.

Keywords: cross modal; pyramidal neurons; density; multiple morphological ... See more keywords
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Novel frameshift mutation in STK33 is associated with asthenozoospermia and multiple morphological abnormality of the flagella.

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Published in 2021 at "Human molecular genetics"

DOI: 10.1093/hmg/ddab165

Abstract: Serine/threonine kinases domain-containing proteins are known to play important functions in sperm flagella and male fertility. However, the roles of these proteins in human reproduction remain poorly understood and whether their variants are associated with… read more here.

Keywords: serine threonine; flagella; multiple morphological; stk33 ... See more keywords
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Novel compound heterozygous variants of DNAH17 in a Chinese infertile man with multiple morphological abnormalities of sperm flagella

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Published in 2022 at "Andrologia"

DOI: 10.1111/and.14553

Abstract: Multiple morphological abnormalities of the sperm flagellum (MMAF) have been reported to be an important cause of male infertility and reflect a heterogeneous genetic disorder. Previous studies have identified dozens of candidate pathogenic genes for… read more here.

Keywords: heterozygous variants; compound heterozygous; multiple morphological; abnormalities sperm ... See more keywords
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Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella

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Published in 2020 at "Clinical Genetics"

DOI: 10.1111/cge.13898

Abstract: Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe type of teratozoospermia. In this study, whole‐exome sequencing was conducted on 55 patients with MMAF, and biallelic mutations of CFAP58 were identified in two… read more here.

Keywords: morphological abnormalities; abnormalities sperm; sperm flagella; multiple morphological ... See more keywords
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Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice

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Published in 2023 at "JCI Insight"

DOI: 10.1172/jci.insight.166869

Abstract: Multiple morphological abnormalities of the sperm flagella (MMAF) are the most severe form of asthenozoospermia due to impaired axoneme structure in sperm flagella. Dynein arms are necessary components of the sperm flagellar axoneme. In this… read more here.

Keywords: loss function; function mutations; loss; mutations cfap57 ... See more keywords
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Novel Compound Heterozygous Variants in CCDC40 Associated with Primary Ciliary Dyskinesia and Multiple Morphological Abnormalities of the Sperm Flagella

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Published in 2022 at "Pharmacogenomics and Personalized Medicine"

DOI: 10.2147/pgpm.s359821

Abstract: Abstract Primary ciliary dyskinesia (PCD) is a rare genetic disease caused by mutations of genes coding motile-cilia-related proteins. CCDC40 variants can cause PCD via disrupting the assembling of inner dynein and dynein regulating complex in… read more here.

Keywords: primary ciliary; multiple morphological; flagella; ciliary dyskinesia ... See more keywords