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Association study of the three functional polymorphisms (TAS2R46G>A, OR4C16G>A, and OR4X1A>T) with recurrent pregnancy loss
This study was purposed to investigate whether genetic polymorphisms in the function of stop-gain are associated with a fetal or placental...
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On the Problem of Female Infertility: A Search for Genetic Markers
In one of every ten cases, the reason behind female infertility turns out to be an orphan disease called hypogonadotropic hypogonadism, the only...
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Role of nuclear and mitochondrial genes in human male infertility: a review
Infertility affects very high percentage (15%) of couples and nearly 50% of these are accountable to the male partners. Reproduction encompassed two...
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Structural Alterations in Human Fibroblast Growth Factor Receptors in Carcinogenesis
Fibroblast growth factor (FGF) plays an important role in human embryogenesis, angiogenesis, cell proliferation, and differentiation. Carcinogenesis...
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Clinical interpretation of copy number variants in the human genome
Molecular methods, by which copy number variants (CNVs) detection is available, have been gradually introduced into routine diagnostics over the last...
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Human sex development: targeted technologies to improve diagnosis
A new study of disorders of sex development presents an improved targeted next-generation sequencing approach for their diagnosis.
Please see related...
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Commercial FISH Probes
Sources for commercially available FISH probes, labeled or unlabeled ones, are urgently necessary prerequisites of molecular cytogenetic field. Here...
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Protein- und Peptid-Hormone von Vertebraten
Dieses Kapitel befasst sich mit den Protein- und Peptidhormonen der Vertebraten im Gehirn und in der Peripherie, die an der Regelung der Vermehrung,...
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Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
BackgroundDisorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical...
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Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies
The aim of this review is to provide the current state of knowledge about the usefulness of modern genetic technologies in uncovering the causality...
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Genetic Predictors of Susceptibility to Dermatophytoses
Countless observational studies conducted over the last century reveal that dermatophytes infect humans of every age, race, gender, and socioeconomic...
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Systematic identification of novel biomarker signatures associated with acquired erlotinib resistance in cancer cells
Acquired erlotinib resistance (AER) during cancer treatment remains a major clinical challenge that results in the recurrence and metastasis of...
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Cell migration in the develo** rodent olfactory system
The components of the nervous system are assembled in development by the process of cell migration. Although the principles of cell migration are...
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Mutational landscape of the human Y chromosome-linked genes and loci in patients with hypogonadism
Sex chromosome-related anomalies engender plethora of conditions leading to male infertility. Hypogonadotropic hypogonadism (HH) is a rare but...
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Eigenvector metabolite analysis reveals dietary effects on the association among metabolite correlation patterns, gene expression, and phenotypes
Introduction‘Multi-omics’ datasets obtained from an organism of interest reared under different environmental treatments are increasingly common....
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Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene
Loss-of-function mutations of the KAL1 gene are a known cause of Kallmann syndrome, a disorder characterized by the coexistence of hypogonadotropic...
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Hypogonadotropic Hypogonadism and Gynaecomastia in the Young Adult: A Case Series
We present three cases who presented to our Endocrinology OPD a few days apart with the common complaints of no or minimal development of secondary...
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The FGFR Receptor Family
Fibroblast Growth Factors (FGFs), in a complex with their receptors (FGFRs) and heparan sulphate (HS), impact on a wide range of cellular functions,...
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N-methyl d-aspartate receptor synaptonuclear signaling and neuronal migration factor (Nsmf) plays a novel role in myoblast proliferation
Myogenesis, the formation and regeneration of muscular tissue, is a fundamental factor in embryonic development. N -methyl d -aspartate (NMDA) receptor...
