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A novel SOX10 mutation causing Waardenburg syndrome type 2 by expressing a truncated and dysfunctional protein in a Chinese child
ObjectivesThis study aimed to identify the causative variants in a patient with Waardenburg syndrome (WS) type 2 using whole exome sequencing (WES).
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Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes
We investigated hearing impairment (HI) in 51 families from Ghana with at least two affected members that were negative for GJB2 pathogenic variants....
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Ca2+ homeostasis maintained by TMCO1 underlies corpus callosum development via ERK signaling
Transmembrane of coiled-coil domains 1 (TMCO1) plays an important role in maintaining homeostasis of calcium (Ca 2+ ) stores in the endoplasmic...
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Genetic Counseling in Reproductive Medicine
Genetics is a rapidly changing landscape, and its applications have expanded into many areas of medicine, including human reproduction and...
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Genome-wide association study for stayability at different calvings in Nellore beef cattle
BackgroundingStayability, which may be defined as the probability of a cow remaining in the herd until a reference age or at a specific number of...
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Lipidomics random forest algorithm of seminal plasma is a promising method for enhancing the diagnosis of necrozoospermia
BackgroundDespite the clear clinical diagnostic criteria for necrozoospermia in andrology, the fundamental mechanisms underlying it remain elusive....
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SARS-CoV-2 cell entry beyond the ACE2 receptor
BackgroundAngiotensin-converting enzyme 2 (ACE2) is known as the major viral entry site for SARS-CoV-2. However, viral tissue tropism and high rate...
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Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing
For non-syndromic cleft lip with or without cleft palate (ns-CL/P), the proportion of heritability explained by the known risk loci is estimated to...
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Krankheiten des endokrinen Systems
Das Hormonsystem ist mit den elementaren Körperfunktionen so eng verknüpft, dass Defekte des endokrinen Systems zu Krankheiten bis hin zum Tod...
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Insights into the Regulation on Proliferation and Differentiation of Stem Leydig Cells
Male hypogonadism is a clinical syndrome caused by testosterone deficiency. Hypogonadism can be caused by testicular disease (primary hypogonadism)...
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Fibroblast growth factor signaling in axons: from development to disease
The fibroblast growth factor (FGF) family regulates various and important aspects of nervous system development, ranging from the well-established...
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Mechanisms underlying pre- and postnatal development of the vomeronasal organ
The vomeronasal organ (VNO) is sensory organ located in the ventral region of the nasal cavity in rodents. The VNO develops from the olfactory...
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Development of multiplexed orthogonal base editor (MOBE) systems
Base editors (BEs) enable efficient, programmable installation of point mutations while avoiding the use of double-strand breaks. Simultaneous...
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Comparative genomic analysis of eutherian fibroblast growth factor genes
BackgroundThe eutherian fibroblast growth factors were implicated as key regulators in developmental processes. However, there were major...
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CRISPR/Cas9 in Male Factor Infertility
Purpose of ReviewMale factor infertility is common and often multifactorial. A subset of these patients have underlying genetic etiologies....
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Lipolysis: cellular mechanisms for lipid mobilization from fat stores
The perception that intracellular lipolysis is a straightforward process that releases fatty acids from fat stores in adipose tissue to generate...
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Bromodomain biology and drug discovery
The bromodomain (BrD) is a conserved structural module found in chromatin- and transcription-associated proteins that acts as the primary reader for...
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Organe des Hormonsystems und ihre Entstehung
Ein Blick in die Bildungszentren unserer Hormone soll die Unterschiede zwischen den speziellen endokrinen Drüsen wie Darm, Pankreas, Nebenniere oder...
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Brain transcriptome profile after CRISPR-induced ghrelin mutations in zebrafish
Ghrelin (GRL) is a gut-brain hormone with a role in a wide variety of physiological functions in mammals and fish, which points out the ghrelinergic...
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Recent advances in mammalian reproductive biology
Reproductive biology is a uniquely important topic since it is about germ cells, which are central for transmitting genetic information from...