We are analyzing https://link.springer.com/article/10.1007/s00439-020-02112-y.

Title:
Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives | Human Genetics
Description:
It is estimated that one in 100 men have azoospermia, the complete lack of sperm in the ejaculate. Currently, ~ 20% of azoospermia cases remain idiopathic. Non-obstructive azoospermia (NOA) is mostly explained by congenital factors leading to spermatogenic failure, such as chromosome abnormalities. The knowledge of the monogenic causes of NOA is very limited. High genetic heterogeneity due to the complexity of spermatogenesis and testicular function, lack of non-consanguineous familial cases and confirmatory studies challenge the field. The reported monogenic defects cause syndromic NOA phenotypes presenting also additional congenital problems and isolated NOA cases, explained by spermatogenic defects. The established and recently reported NOA genes (n = 38) represent essential guardians of meiosis, transcriptional and endocrine regulators of reproduction. Despite the list being short, 92% of these loci are predicted to functionally interact with each other (STRING analysis: average 5.21 connections/gene, enrichment P < 10–16). Notably, ~ 50% of NOA genes have also been implicated in primary ovarian insufficiency, amenorrhea and female genital anomalies, referring to overlapping mechanisms. Considering the knowledge from respective female phenotypes and animal models, exploring the scenarios of di/oligogenic and de novo mutations represent perspective directions in the genetic research of NOA. Knowing the exact genetic cause in each patient improves the management of infertility and other health risks (e.g., cancer), and facilitates the counseling of family members about their reproductive health. Uncovering the loci and biological processes implicated in NOA will also broaden the understanding of etiologies behind spermatogenic failure and promote the development of novel non-invasive treatments for male infertility.
Website Age:
28 years and 1 months (reg. 1997-05-29).

Matching Content Categories {📚}

Education
Science
Business & Finance

Content Management System {📝}

What CMS is link.springer.com built with?

Custom-built

No common CMS systems were detected on Link.springer.com, and no known web development framework was identified.

Traffic Estimate {📈}

What is the average monthly size of link.springer.com audience?

🌠 Phenomenal Traffic: 5M - 10M visitors per month

Based on our best estimate, this website will receive around 8,170,236 visitors per month in the current month.

check SE Ranking
check Ahrefs
check Similarweb
check Ubersuggest
check Semrush

How Does Link.springer.com Make Money? {💸}

We're unsure if the website is profiting.

Many websites are intended to earn money, but some serve to share ideas or build connections. Websites exist for all kinds of purposes. This might be one of them. Link.springer.com might be making money, but it's not detectable how they're doing it.

Keywords {🔍}

pubmed, article, google, scholar, cas, central, genet, azoospermia, hum, mutations, infertility, male, gene, med, human, mutation, httpsdoiorgs, endocrinol, nonobstructive, genetic, development, reprod, biol, meiotic, nat, hypogonadism, cell, genetics, men, sex, mol, congenital, failure, genes, factor, dev, hypogonadotropic, sequencing, noa, spermatogenesis, cancer, disorders, rev, nra, sci, fertil, steril, httpsdoiorgjfertnstert, essential, kasak,

Topics {✒️}

month download article/chapter gonadotropin beta-subunit genes protein-protein association networks cystathionine-beta-synthase variants dna interstrand cross-links pirna-mediated retrotransposon silencing proteomics tissue-based map alpha-n-acetylglucosaminidase variants genome-wide experimental datasets cross-species resource compatible long-term gnrh therapy bi-allelic recessive loss primary gonadal failure full article pdf long-term outcomes x-linked tex11 mutations article kasak meiosis-specific recombinase dmc1 vertebrate-specific gene required duplicated lhb/cgb loci congenital hypogonadotropic hypogonadism–pathogenesis x-linked factor sex-specific gene expression male infertility access human brca2 protein privacy choices/manage cookies chromosome-linked kallmann syndrome androgen receptor roles inducing sperm defects achermann jc enyeart-vanhouten dl distinct genetic architectures human lutropin receptor follicle-stimulating hormone related subjects o'bryan mk o'sullivan mg hardelin jp testicular meiotic arrest testicular biopsy findings single-cell studies rajpert-de meyts rajpert‑de meyts male reproductive impairment singular dm domain male factor infertility single‑cell transcriptomics germ cell arrest exome sequencing reveals human fetal gonads

Questions {❓}

Camats N, Fernandez-Cancio M, Audi L, Schaller A, Fluck CE (2018) Broad phenotypes in heterozygous NR5A1 46, XY patients with a disorder of sex development: an oligogenic origin?
Soraggi S, Riera M, Rajpert‑De Meyts E, Schierup MH, Almstrup K (2020) Evaluating genetic causes of azoospermia: What can we learn from a complex cellular structure and single‑cell transcriptomics of the human testis?
Vloeberghs V, Verheyen G, Haentjens P, Goossens A, Polyzos NP, Tournaye H (2015) How successful is TESE-ICSI in couples with non-obstructive azoospermia?

Schema {🗺️}

WebPage:
      mainEntity:
         headline:Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives
         description:It is estimated that one in 100 men have azoospermia, the complete lack of sperm in the ejaculate. Currently, ~ 20% of azoospermia cases remain idiopathic. Non-obstructive azoospermia (NOA) is mostly explained by congenital factors leading to spermatogenic failure, such as chromosome abnormalities. The knowledge of the monogenic causes of NOA is very limited. High genetic heterogeneity due to the complexity of spermatogenesis and testicular function, lack of non-consanguineous familial cases and confirmatory studies challenge the field. The reported monogenic defects cause syndromic NOA phenotypes presenting also additional congenital problems and isolated NOA cases, explained by spermatogenic defects. The established and recently reported NOA genes (n = 38) represent essential guardians of meiosis, transcriptional and endocrine regulators of reproduction. Despite the list being short, 92% of these loci are predicted to functionally interact with each other (STRING analysis: average 5.21 connections/gene, enrichment P < 10–16). Notably, ~ 50% of NOA genes have also been implicated in primary ovarian insufficiency, amenorrhea and female genital anomalies, referring to overlapping mechanisms. Considering the knowledge from respective female phenotypes and animal models, exploring the scenarios of di/oligogenic and de novo mutations represent perspective directions in the genetic research of NOA. Knowing the exact genetic cause in each patient improves the management of infertility and other health risks (e.g., cancer), and facilitates the counseling of family members about their reproductive health. Uncovering the loci and biological processes implicated in NOA will also broaden the understanding of etiologies behind spermatogenic failure and promote the development of novel non-invasive treatments for male infertility.
         datePublished:2020-01-18T00:00:00Z
         dateModified:2020-01-18T00:00:00Z
         pageStart:135
         pageEnd:154
         sameAs:https://doi.org/10.1007/s00439-020-02112-y
         keywords:
            Human Genetics
            Molecular Medicine
            Gene Function
            Metabolic Diseases
         image:
            https://media.springernature.com/lw1200/springer-static/image/art%3A10.1007%2Fs00439-020-02112-y/MediaObjects/439_2020_2112_Fig1_HTML.png
            https://media.springernature.com/lw1200/springer-static/image/art%3A10.1007%2Fs00439-020-02112-y/MediaObjects/439_2020_2112_Fig2_HTML.png
            https://media.springernature.com/lw1200/springer-static/image/art%3A10.1007%2Fs00439-020-02112-y/MediaObjects/439_2020_2112_Fig3_HTML.png
         isPartOf:
            name:Human Genetics
            issn:
               1432-1203
               0340-6717
            volumeNumber:140
            type:
               Periodical
               PublicationVolume
         publisher:
            name:Springer Berlin Heidelberg
            logo:
               url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
               type:ImageObject
            type:Organization
         author:
               name:Laura Kasak
               url:http://orcid.org/0000-0003-4182-2396
               affiliation:
                     name:University of Tartu
                     address:
                        name:Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia
                        type:PostalAddress
                     type:Organization
               type:Person
               name:Maris Laan
               url:http://orcid.org/0000-0002-8519-243X
               affiliation:
                     name:University of Tartu
                     address:
                        name:Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia
                        type:PostalAddress
                     type:Organization
               email:[email protected]
               type:Person
         isAccessibleForFree:
         hasPart:
            isAccessibleForFree:
            cssSelector:.main-content
            type:WebPageElement
         type:ScholarlyArticle
      context:https://schema.org
ScholarlyArticle:
      headline:Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives
      description:It is estimated that one in 100 men have azoospermia, the complete lack of sperm in the ejaculate. Currently, ~ 20% of azoospermia cases remain idiopathic. Non-obstructive azoospermia (NOA) is mostly explained by congenital factors leading to spermatogenic failure, such as chromosome abnormalities. The knowledge of the monogenic causes of NOA is very limited. High genetic heterogeneity due to the complexity of spermatogenesis and testicular function, lack of non-consanguineous familial cases and confirmatory studies challenge the field. The reported monogenic defects cause syndromic NOA phenotypes presenting also additional congenital problems and isolated NOA cases, explained by spermatogenic defects. The established and recently reported NOA genes (n = 38) represent essential guardians of meiosis, transcriptional and endocrine regulators of reproduction. Despite the list being short, 92% of these loci are predicted to functionally interact with each other (STRING analysis: average 5.21 connections/gene, enrichment P < 10–16). Notably, ~ 50% of NOA genes have also been implicated in primary ovarian insufficiency, amenorrhea and female genital anomalies, referring to overlapping mechanisms. Considering the knowledge from respective female phenotypes and animal models, exploring the scenarios of di/oligogenic and de novo mutations represent perspective directions in the genetic research of NOA. Knowing the exact genetic cause in each patient improves the management of infertility and other health risks (e.g., cancer), and facilitates the counseling of family members about their reproductive health. Uncovering the loci and biological processes implicated in NOA will also broaden the understanding of etiologies behind spermatogenic failure and promote the development of novel non-invasive treatments for male infertility.
      datePublished:2020-01-18T00:00:00Z
      dateModified:2020-01-18T00:00:00Z
      pageStart:135
      pageEnd:154
      sameAs:https://doi.org/10.1007/s00439-020-02112-y
      keywords:
         Human Genetics
         Molecular Medicine
         Gene Function
         Metabolic Diseases
      image:
         https://media.springernature.com/lw1200/springer-static/image/art%3A10.1007%2Fs00439-020-02112-y/MediaObjects/439_2020_2112_Fig1_HTML.png
         https://media.springernature.com/lw1200/springer-static/image/art%3A10.1007%2Fs00439-020-02112-y/MediaObjects/439_2020_2112_Fig2_HTML.png
         https://media.springernature.com/lw1200/springer-static/image/art%3A10.1007%2Fs00439-020-02112-y/MediaObjects/439_2020_2112_Fig3_HTML.png
      isPartOf:
         name:Human Genetics
         issn:
            1432-1203
            0340-6717
         volumeNumber:140
         type:
            Periodical
            PublicationVolume
      publisher:
         name:Springer Berlin Heidelberg
         logo:
            url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
            type:ImageObject
         type:Organization
      author:
            name:Laura Kasak
            url:http://orcid.org/0000-0003-4182-2396
            affiliation:
                  name:University of Tartu
                  address:
                     name:Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Maris Laan
            url:http://orcid.org/0000-0002-8519-243X
            affiliation:
                  name:University of Tartu
                  address:
                     name:Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia
                     type:PostalAddress
                  type:Organization
            email:[email protected]
            type:Person
      isAccessibleForFree:
      hasPart:
         isAccessibleForFree:
         cssSelector:.main-content
         type:WebPageElement
["Periodical","PublicationVolume"]:
      name:Human Genetics
      issn:
         1432-1203
         0340-6717
      volumeNumber:140
Organization:
      name:Springer Berlin Heidelberg
      logo:
         url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
         type:ImageObject
      name:University of Tartu
      address:
         name:Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia
         type:PostalAddress
      name:University of Tartu
      address:
         name:Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia
         type:PostalAddress
ImageObject:
      url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
Person:
      name:Laura Kasak
      url:http://orcid.org/0000-0003-4182-2396
      affiliation:
            name:University of Tartu
            address:
               name:Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia
               type:PostalAddress
            type:Organization
      name:Maris Laan
      url:http://orcid.org/0000-0002-8519-243X
      affiliation:
            name:University of Tartu
            address:
               name:Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia
               type:PostalAddress
            type:Organization
      email:[email protected]
PostalAddress:
      name:Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia
      name:Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia
WebPageElement:
      isAccessibleForFree:
      cssSelector:.main-content

External Links {🔗}(676)

Analytics and Tracking {📊}

Google Tag Manager

Libraries {📚}

Clipboard.js
Prism.js

CDN Services {📦}

Crossref

4.57s.

LINK . SPRINGER . COM {}