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Article: Infancy is not a quiescent period of testicular development.

Chemes, H E

2001 Volume 24, Issue 1, Page(s) 2–7

Abstract: Postnatal evolution of the testis in most laboratory animals is characterized by the close continuity between neonatal activation and pubertal development. In higher primates, infancy, a long period of variable duration, separates birth from the ... ...

Abstract	Postnatal evolution of the testis in most laboratory animals is characterized by the close continuity between neonatal activation and pubertal development. In higher primates, infancy, a long period of variable duration, separates birth from the beginning of puberty. This period has been classically considered as a quiescent phase of testicular development, but is actually characterized by intense, yet inapparent activity. Testicular volume increases vigorously shortly after birth and in early infancy due to the growth in length of seminiferous cords. This longitudinal growth results from active proliferation of infantile Sertoli cells which otherwise display a unique array of functional capabilities (oestrogen and anti-müllerian hormone secretion, increase of FSH receptors and maximal response to FSH). Leydig cells also show recrudescence after birth, possibly determined by an active gonadotrophic-testicular axis which results in increased testosterone secretion of uncertain functional role. This postnatal activation slowly subsides during late infancy when periodic phases of activation of the hypothalamo-pituitary-testicular axis are paralleled by incomplete spermatogenic spurts. The beginning of puberty is marked by the simultaneous reawakening of Leydig cell function and succeeding phases of germ cell differentiation/degeneration which ultimately lead to final spermatogenic maturation. The marked testicular growth in this stage is due to progressive increase at seminiferous tubule diameter. Sertoli cells, which have reached mitotic arrest, develop and differentiate, establishing the seminiferous tubule barrier, fluid secretion and lumen formation, and acquiring cyclic morphological and metabolic variations characteristic of the mature stage. All of these modifications indicate that, far from being quiescent, the testis in primates experiences numerous changes during infancy, and that the potential for pubertal development and normal adult fertility depends on the successful completion of these changes.
MeSH term(s)	Animals ; Cell Division ; Humans ; Infant ; Leydig Cells/cytology ; Male ; Primates ; Seminiferous Tubules/cytology ; Sertoli Cells/cytology ; Spermatozoa/cytology ; Testis/growth & development
Language	English
Publishing date	2001-02
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	413205-1
ISSN	1365-2605 ; 0105-6263
ISSN (online)	1365-2605
ISSN	0105-6263
DOI	10.1046/j.1365-2605.2001.00260.x
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Zs.A 1408: Show issues

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Article: Phenotypes of sperm pathology: genetic and acquired forms in infertile men.

Chemes, H E

Journal of andrology

2000 Volume 21, Issue 6, Page(s) 799–808

MeSH term(s)	Humans ; Infertility, Male/genetics ; Infertility, Male/pathology ; Male ; Oligospermia/genetics ; Oligospermia/pathology ; Sperm Head/pathology ; Sperm Head/ultrastructure ; Sperm Tail/pathology ; Sperm Tail/ultrastructure ; Spermatozoa/pathology ; Spermatozoa/ultrastructure
Language	English
Publishing date	2000-11
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	604624-1
ISSN	1939-4640 ; 0196-3635
ISSN (online)	1939-4640
ISSN	0196-3635
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Zs.A 1585: Show issues

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Article ; Online: Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders.

Oud, M S / Houston, B J / Volozonoka, L / Mastrorosa, F K / Holt, G S / Alobaidi, B K S / deVries, P F / Astuti, G / Ramos, L / Mclachlan, R I / O'Bryan, M K / Veltman, J A / Chemes, H E / Sheth, H

Human reproduction (Oxford, England)

2021 Volume 36, Issue 9, Page(s) 2597–2611

Abstract: ... from the National Research Council of Argentina (PIP 0900 and 4584) and ANPCyT (PICT 9591) to H.E.C. and a UUKi Rutherford Fund ... Fellowship awarded to B.J.H. ...

Abstract	Study question: What are the causative genetic variants in patients with male infertility due to severe sperm motility disorders? Summary answer: We identified high confidence disease-causing variants in multiple genes previously associated with severe sperm motility disorders in 10 out of 21 patients (48%) and variants in novel candidate genes in seven additional patients (33%). What is known already: Severe sperm motility disorders are a form of male infertility characterised by immotile sperm often in combination with a spectrum of structural abnormalities of the sperm flagellum that do not affect viability. Currently, depending on the clinical sub-categorisation, up to 50% of causality in patients with severe sperm motility disorders can be explained by pathogenic variants in at least 22 genes. Study design, size, duration: We performed exome sequencing in 21 patients with severe sperm motility disorders from two different clinics. Participants/materials, setting, method: Two groups of infertile men, one from Argentina (n = 9) and one from Australia (n = 12), with clinically defined severe sperm motility disorders (motility <5%) and normal morphology values of 0-4%, were included. All patients in the Argentine cohort were diagnosed with DFS-MMAF, based on light and transmission electron microscopy. Sperm ultrastructural information was not available for the Australian cohort. Exome sequencing was performed in all 21 patients and variants with an allele frequency of <1% in the gnomAD population were prioritised and interpreted. Main results and role of chance: In 10 of 21 patients (48%), we identified pathogenic variants in known sperm assembly genes: CFAP43 (3 patients); CFAP44 (2 patients), CFAP58 (1 patient), QRICH2 (2 patients), DNAH1 (1 patient) and DNAH6 (1 patient). The diagnostic rate did not differ markedly between the Argentinian and the Australian cohort (55% and 42%, respectively). Furthermore, we identified patients with variants in the novel human candidate sperm motility genes: DNAH12, DRC1, MDC1, PACRG, SSPL2C and TPTE2. One patient presented with variants in four candidate genes and it remains unclear which variants were responsible for the severe sperm motility defect in this patient. Large scale data: N/A. Limitations, reasons for caution: In this study, we described patients with either a homozygous or two heterozygous candidate pathogenic variants in genes linked to sperm motility disorders. Due to unavailability of parental DNA, we have not assessed the frequency of de novo or maternally inherited dominant variants and could not determine the parental origin of the mutations to establish in all cases that the mutations are present on both alleles. Wider implications of the findings: Our results confirm the likely causal role of variants in six known genes for sperm motility and we demonstrate that exome sequencing is an effective method to diagnose patients with severe sperm motility disorders (10/21 diagnosed; 48%). Furthermore, our analysis revealed six novel candidate genes for severe sperm motility disorders. Genome-wide sequencing of additional patient cohorts and re-analysis of exome data of currently unsolved cases may reveal additional variants in these novel candidate genes. Study funding/competing interest(s): This project was supported in part by funding from the Australian National Health and Medical Research Council (APP1120356) to M.K.O.B., J.A.V. and R.I.M.L., The Netherlands Organisation for Scientific Research (918-15-667) to J.A.V., the Royal Society and Wolfson Foundation (WM160091) to J.A.V., as well as an Investigator Award in Science from the Wellcome Trust (209451) to J.A.V. and Grants from the National Research Council of Argentina (PIP 0900 and 4584) and ANPCyT (PICT 9591) to H.E.C. and a UUKi Rutherford Fund Fellowship awarded to B.J.H.
MeSH term(s)	Australia ; Exome ; Humans ; Infertility, Male/genetics ; Male ; Sperm Motility/genetics ; Sperm Tail ; Spermatozoa ; Whole Exome Sequencing
Language	English
Publishing date	2021-06-01
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	632776-x
ISSN	1460-2350 ; 0268-1161 ; 1477-741X
ISSN (online)	1460-2350
ISSN	0268-1161 ; 1477-741X
DOI	10.1093/humrep/deab099
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Zs.B 2892: Show issues

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Article ; Online: Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia.

Oud, M S / Okutman, Ö / Hendricks, L A J / de Vries, P F / Houston, B J / Vissers, L E L M / O'Bryan, M K / Ramos, L / Chemes, H E / Viville, S / Veltman, J A

Human reproduction (Oxford, England)

2020 Volume 35, Issue 1, Page(s) 240–252

Abstract: Study question: Can exome sequencing identify new genetic causes of globozoospermia?: Summary answer: Exome sequencing in 15 cases of unexplained globozoospermia revealed deleterious mutations in seven new genes, of which two have been validated as ... ...

Abstract	Study question: Can exome sequencing identify new genetic causes of globozoospermia? Summary answer: Exome sequencing in 15 cases of unexplained globozoospermia revealed deleterious mutations in seven new genes, of which two have been validated as causing globozoospermia when knocked out in mouse models. What is known already: Globozoospermia is a rare form of male infertility characterised by round-headed sperm and malformation of the acrosome. Although pathogenic variants in DPY19L2 and SPATA16 are known causes of globozoospermia and explain up to 70% of all cases, genetic causality remains unexplained in the remaining patients. Study design, size, duration: After pre-screening 16 men for mutations in known globozoospermia genes DPY19L2 and SPATA16, exome sequencing was performed in 15 males with globozoospermia or acrosomal hypoplasia of unknown aetiology. Participants/materials, setting, method: Targeted next-generation sequencing and Sanger sequencing was performed for all 16 patients to screen for single-nucleotide variants and copy number variations in DPY19L2 and SPATA16. After exclusion of one patient with DPY19L2 mutations, we performed exome sequencing for the 15 remaining subjects. We prioritised recessive and X-linked protein-altering variants with an allele frequency of <0.5% in the population database GnomAD in genes with an enhanced expression in the testis. All identified candidate variants were confirmed in patients and, where possible, in family members using Sanger sequencing. Ultrastructural examination of semen from one of the patients allowed for a precise phenotypic characterisation of abnormal spermatozoa. Main results and role of chance: After prioritisation and validation, we identified possibly causative variants in eight of 15 patients investigated by exome sequencing. The analysis revealed homozygous nonsense mutations in ZPBP and CCDC62 in two unrelated patients, as well as rare missense mutations in C2CD6 (also known as ALS2CR11), CCIN, C7orf61 and DHNA17 and a frameshift mutation in GGN in six other patients. All variants identified through exome sequencing, except for the variants in DNAH17, were located in a region of homozygosity. Familial segregation of the nonsense variant in ZPBP revealed two fertile brothers and the patient's mother to be heterozygous carriers. Paternal DNA was unavailable. Immunohistochemistry confirmed that ZPBP localises to the acrosome in human spermatozoa. Ultrastructural analysis of spermatozoa in the patient with the C7orf61 mutation revealed a mixture of round heads with no acrosomes (globozoospermia) and ovoid or irregular heads with small acrosomes frequently detached from the sperm head (acrosomal hypoplasia). Limitations, reasons for caution: Stringent filtering criteria were used in the exome data analysis which could result in possible pathogenic variants remaining undetected. Additionally, functional follow-up is needed for several candidate genes to confirm the impact of these mutations on normal spermatogenesis. Wider implications of the findings: Our study revealed an important role for mutations in ZPBP and CCDC62 in human globozoospermia as well as five new candidate genes. These findings provide a more comprehensive understanding of the genetics of male infertility and bring us closer to a complete molecular diagnosis for globozoospermia patients which would help to predict the success of reproductive treatments. Study funding/competing interest(s): This study was funded by The Netherlands Organisation for Scientific Research (918-15-667); National Health and Medical Research Council of Australia (APP1120356) and the National Council for Scientific Research (CONICET), Argentina, PIP grant 11220120100279CO. The authors have nothing to disclose.
MeSH term(s)	Australia ; DNA Copy Number Variations ; Exome ; Humans ; Infertility, Male/genetics ; Male ; Membrane Proteins/genetics ; Netherlands ; Spermatozoa ; Teratozoospermia/genetics
Chemical Substances	DPY19L2 protein, human ; Membrane Proteins
Language	English
Publishing date	2020-01-27
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	632776-x
ISSN	1460-2350 ; 0268-1161 ; 1477-741X
ISSN (online)	1460-2350
ISSN	0268-1161 ; 1477-741X
DOI	10.1093/humrep/dez246
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Article ; Online: Short linear motif candidates in the cell entry system used by SARS-CoV-2 and their potential therapeutic implications.

Mészáros, Bálint / Sámano-Sánchez, Hugo / Alvarado-Valverde, Jesús / Čalyševa, Jelena / Martínez-Pérez, Elizabeth / Alves, Renato / Shields, Denis C / Kumar, Manjeet / Rippmann, Friedrich / Chemes, Lucía B / Gibson, Toby J

Science signaling

2021 Volume 14, Issue 665

Abstract: The first reported receptor for SARS-CoV-2 on host cells was the angiotensin-converting enzyme 2 (ACE2). However, the viral spike protein also has an RGD motif, suggesting that cell surface integrins may be co-receptors. We examined the sequences of ACE2 ...

Abstract	The first reported receptor for SARS-CoV-2 on host cells was the angiotensin-converting enzyme 2 (ACE2). However, the viral spike protein also has an RGD motif, suggesting that cell surface integrins may be co-receptors. We examined the sequences of ACE2 and integrins with the Eukaryotic Linear Motif (ELM) resource and identified candidate short linear motifs (SLiMs) in their short, unstructured, cytosolic tails with potential roles in endocytosis, membrane dynamics, autophagy, cytoskeleton, and cell signaling. These SLiM candidates are highly conserved in vertebrates and may interact with the μ2 subunit of the endocytosis-associated AP2 adaptor complex, as well as with various protein domains (namely, I-BAR, LC3, PDZ, PTB, and SH2) found in human signaling and regulatory proteins. Several motifs overlap in the tail sequences, suggesting that they may act as molecular switches, such as in response to tyrosine phosphorylation status. Candidate LC3-interacting region (LIR) motifs are present in the tails of integrin β
MeSH term(s)	Amino Acid Sequence ; Angiotensin-Converting Enzyme 2/chemistry ; Angiotensin-Converting Enzyme 2/genetics ; Angiotensin-Converting Enzyme 2/physiology ; Animals ; COVID-19/therapy ; COVID-19/virology ; Conserved Sequence ; Host Microbial Interactions/genetics ; Host Microbial Interactions/physiology ; Humans ; Integrins/chemistry ; Integrins/genetics ; Integrins/physiology ; Intrinsically Disordered Proteins/chemistry ; Intrinsically Disordered Proteins/genetics ; Intrinsically Disordered Proteins/physiology ; Models, Biological ; Models, Molecular ; Oligopeptides/chemistry ; Oligopeptides/genetics ; Oligopeptides/physiology ; Protein Interaction Domains and Motifs/genetics ; Protein Interaction Domains and Motifs/physiology ; Protein Sorting Signals/genetics ; Protein Sorting Signals/physiology ; Receptors, Virus/chemistry ; Receptors, Virus/genetics ; Receptors, Virus/physiology ; SARS-CoV-2/genetics ; SARS-CoV-2/pathogenicity ; SARS-CoV-2/physiology ; Spike Glycoprotein, Coronavirus/chemistry ; Spike Glycoprotein, Coronavirus/genetics ; Spike Glycoprotein, Coronavirus/physiology ; Virus Internalization
Chemical Substances	Integrins ; Intrinsically Disordered Proteins ; Oligopeptides ; Protein Sorting Signals ; Receptors, Virus ; Spike Glycoprotein, Coronavirus ; spike protein, SARS-CoV-2 ; arginyl-glycyl-aspartic acid (78VO7F77PN) ; ACE2 protein, human (EC 3.4.17.23) ; Angiotensin-Converting Enzyme 2 (EC 3.4.17.23)
Language	English
Publishing date	2021-01-12
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2417226-1
ISSN	1937-9145 ; 1945-0877
ISSN (online)	1937-9145
ISSN	1945-0877
DOI	10.1126/scisignal.abd0334
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Article ; Online: The Eukaryotic Linear Motif resource: 2022 release.

Kumar, Manjeet / Michael, Sushama / Alvarado-Valverde, Jesús / Mészáros, Bálint / Sámano-Sánchez, Hugo / Zeke, András / Dobson, Laszlo / Lazar, Tamas / Örd, Mihkel / Nagpal, Anurag / Farahi, Nazanin / Käser, Melanie / Kraleti, Ramya / Davey, Norman E / Pancsa, Rita / Chemes, Lucía B / Gibson, Toby J

Nucleic acids research

2021 Volume 50, Issue D1, Page(s) D497–D508

Abstract: Almost twenty years after its initial release, the Eukaryotic Linear Motif (ELM) resource remains an invaluable source of information for the study of motif-mediated protein-protein interactions. ELM provides a comprehensive, regularly updated and well- ... ...

Abstract	Almost twenty years after its initial release, the Eukaryotic Linear Motif (ELM) resource remains an invaluable source of information for the study of motif-mediated protein-protein interactions. ELM provides a comprehensive, regularly updated and well-organised repository of manually curated, experimentally validated short linear motifs (SLiMs). An increasing number of SLiM-mediated interactions are discovered each year and keeping the resource up-to-date continues to be a great challenge. In the current update, 30 novel motif classes have been added and five existing classes have undergone major revisions. The update includes 411 new motif instances mostly focused on cell-cycle regulation, control of the actin cytoskeleton, membrane remodelling and vesicle trafficking pathways, liquid-liquid phase separation and integrin signalling. Many of the newly annotated motif-mediated interactions are targets of pathogenic motif mimicry by viral, bacterial or eukaryotic pathogens, providing invaluable insights into the molecular mechanisms underlying infectious diseases. The current ELM release includes 317 motif classes incorporating 3934 individual motif instances manually curated from 3867 scientific publications. ELM is available at: http://elm.eu.org.
MeSH term(s)	Actin Cytoskeleton/chemistry ; Actin Cytoskeleton/metabolism ; Animals ; Binding Sites ; Cell Cycle/genetics ; Cell Membrane/chemistry ; Cell Membrane/metabolism ; Communicable Diseases/genetics ; Communicable Diseases/metabolism ; Communicable Diseases/virology ; Cyclins/chemistry ; Cyclins/genetics ; Cyclins/metabolism ; Databases, Protein ; Eukaryotic Cells/cytology ; Eukaryotic Cells/metabolism ; Eukaryotic Cells/virology ; Gene Expression Regulation ; Host-Pathogen Interactions/genetics ; Humans ; Integrins/chemistry ; Integrins/genetics ; Integrins/metabolism ; Mice ; Molecular Sequence Annotation ; Protein Binding ; Protein Interaction Domains and Motifs ; Rats ; Saccharomyces cerevisiae/genetics ; Saccharomyces cerevisiae/metabolism ; Signal Transduction ; Software ; Transport Vesicles/chemistry ; Transport Vesicles/metabolism ; Viruses/genetics ; Viruses/metabolism
Chemical Substances	Cyclins ; Integrins
Language	English
Publishing date	2021-10-28
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	186809-3
ISSN	1362-4962 ; 1362-4954 ; 0301-5610 ; 0305-1048
ISSN (online)	1362-4962 ; 1362-4954
ISSN	0301-5610 ; 0305-1048
DOI	10.1093/nar/gkab975
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Zs.A 1067: Show issues

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Article ; Online: ELM-the eukaryotic linear motif resource in 2020.

Kumar, Manjeet / Gouw, Marc / Michael, Sushama / Sámano-Sánchez, Hugo / Pancsa, Rita / Glavina, Juliana / Diakogianni, Athina / Valverde, Jesús Alvarado / Bukirova, Dayana / Čalyševa, Jelena / Palopoli, Nicolas / Davey, Norman E / Chemes, Lucía B / Gibson, Toby J

Nucleic acids research

2019 Volume 48, Issue D1, Page(s) D296–D306

Abstract: The eukaryotic linear motif (ELM) resource is a repository of manually curated experimentally validated short linear motifs (SLiMs). Since the initial release almost 20 years ago, ELM has become an indispensable resource for the molecular biology ... ...

Abstract	The eukaryotic linear motif (ELM) resource is a repository of manually curated experimentally validated short linear motifs (SLiMs). Since the initial release almost 20 years ago, ELM has become an indispensable resource for the molecular biology community for investigating functional regions in many proteins. In this update, we have added 21 novel motif classes, made major revisions to 12 motif classes and added >400 new instances mostly focused on DNA damage, the cytoskeleton, SH2-binding phosphotyrosine motifs and motif mimicry by pathogenic bacterial effector proteins. The current release of the ELM database contains 289 motif classes and 3523 individual protein motif instances manually curated from 3467 scientific publications. ELM is available at: http://elm.eu.org.
MeSH term(s)	Amino Acid Motifs ; Apicoplasts/metabolism ; Cytoskeleton ; DNA Damage ; Databases, Protein ; Eukaryota ; Phosphotyrosine ; src Homology Domains
Chemical Substances	Phosphotyrosine (21820-51-9)
Language	English
Publishing date	2019-11-04
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	186809-3
ISSN	1362-4962 ; 1362-4954 ; 0301-5610 ; 0305-1048
ISSN (online)	1362-4962 ; 1362-4954
ISSN	0301-5610 ; 0305-1048
DOI	10.1093/nar/gkz1030
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Article ; Online: Is a CIS phenotype apparent in children with Disorders of Sex Development? Milder testicular dysgenesis is associated with a higher risk of malignancy.

Chemes, H E / Venara, M / Del Rey, G / Arcari, A J / Musse, M P / Papazian, R / Forclaz, V / Gottlieb, S

Andrology

2015 Volume 3, Issue 1, Page(s) 59–69

Abstract: All malignant testicular germ cell tumors (TGCT) of adult men are preceded by an in situ stage (CIS) of protracted evolution. The adult CIS is well characterized, but there is debate on the phenotype of infantile CIS, its distinction from delayed ... ...

Abstract	All malignant testicular germ cell tumors (TGCT) of adult men are preceded by an in situ stage (CIS) of protracted evolution. The adult CIS is well characterized, but there is debate on the phenotype of infantile CIS, its distinction from delayed maturation of germ cells and prognostic potential. A large series of 43 patients with Disorders of Sex Development (DSD) and dysgenetic testes (90% ranging from neonates to 12 years, mean age 4.7 years), was studied by quantifying dysgenetic features, degree of germ cell abnormalities/atypia (GCA), expression of OCT 3/4 (a pluripotency-undifferentiation marker), germ cell ploidy and evolution to CIS and invasive TGCT. Findings were compared with those of normal testes. The type of gonads present defined three groups of patients: bilateral testes (BT-DSD, n = 21), one testis and one streak gonad (CT-DSD, C for combined, n = 13), and ovarian-testicular combinations (OT-DSD, n = 9). There were 5 boys with infantile CIS, bilateral in 3 (total of 8 infantile CIS) and two patients with adult CIS, bilateral in one (total of 3 adult CIS). Two patients had bilateral seminomas one at 12-17 and the other at 23 years. Histological dysgenesis was significantly higher in CT-DSD (p < 0.05), that had only 1 CIS. The highest frequency of GCA was in BT-DSD (p < 0.05), which coincided with a total of 11CIS + Seminomas. In all patients, aneuploidy was significantly higher (63%) than diploidy (p < 0.02), and GCA were more frequent in aneuploid than in diploid samples (p < 0.02). All CIS and TGCT were OCT 3/4 positive. Finally, there was a significant association between the triad Aneuploidy + GCA + OCT 3/4 positivity and the incidence of CIS (Fisher Exact test p < 0.002, relative risk 7.0). The degree of testicular dysgenesis (derived from abnormal organization of Sertoli cells in fetal testicular cords) is inversely related to the incidence of CIS. Our data demonstrate that the combined use of OCT 3/4 expression, quantification of germ cell abnormalities-atypia and ploidy in dysgenetic testes can satisfactorily identify infantile CIS with high risk of malignant evolution and set it aside from delayed germ cell maturation with lower or nil neoplastic potential.
MeSH term(s)	Adolescent ; Argentina/epidemiology ; Biomarkers, Tumor/genetics ; Carcinoma in Situ/chemistry ; Carcinoma in Situ/epidemiology ; Carcinoma in Situ/genetics ; Carcinoma in Situ/pathology ; Child ; Child, Preschool ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Gonadal Dysgenesis/epidemiology ; Gonadal Dysgenesis/genetics ; Humans ; Incidence ; Infant ; Infant, Newborn ; Male ; Octamer Transcription Factor-3/analysis ; Phenotype ; Ploidies ; Predictive Value of Tests ; Retrospective Studies ; Risk Assessment ; Risk Factors ; Seminoma/chemistry ; Seminoma/epidemiology ; Seminoma/genetics ; Seminoma/pathology ; Sexual Development/genetics ; Testicular Neoplasms/chemistry ; Testicular Neoplasms/epidemiology ; Testicular Neoplasms/genetics ; Testicular Neoplasms/pathology ; Young Adult
Chemical Substances	Biomarkers, Tumor ; Octamer Transcription Factor-3 ; POU5F1 protein, human
Language	English
Publishing date	2015-01
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2696108-8
ISSN	2047-2927 ; 2047-2919
ISSN (online)	2047-2927
ISSN	2047-2919
DOI	10.1111/andr.301
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Zs.A 6983: Show issues

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Book ; Online: Short linear motif candidates in the cell entry system used by SARS-CoV-2 and their potential therapeutic implications

Mészáros, Bálint / Sámano-Sánchez, Hugo / Alvarado-Valverde, Jesús / Čalyševa, Jelena / Martínez-Pérez, Elizabeth / Alves, Renato / Kumar, Manjeet / Rippmann, Friedrich / Chemes, Lucía B. / Gibson, Toby J. / .

2020

Abstract: ... Corresponding authors are Luc\'ia B. Chemes, Toby J. Gibson ...

Abstract	The primary cell surface receptor for SARS-CoV-2 is the angiotensin-converting enzyme 2 (ACE2). Recently it has been noticed that the viral Spike protein has an RGD motif, suggesting that cell surface integrins may be co-receptors. We examined the sequences of ACE2 and integrins with the Eukaryotic Linear Motif resource, ELM, and were presented with candidate short linear motifs (SLiMs) in their short, unstructured, cytosolic tails with potential roles in endocytosis, membrane dynamics, autophagy, cytoskeleton and cell signalling. These SLiM candidates are highly conserved in vertebrates. They suggest potential interactions with the AP2 mu2 subunit as well as I-BAR, LC3, PDZ, PTB and SH2 domains found in signalling and regulatory proteins present in epithelial lung cells. Several motifs overlap in the tail sequences, suggesting that they may act as molecular switches, often involving tyrosine phosphorylation status. Candidate LIR motifs are present in the tails of ACE2 and integrin beta3, suggesting that these proteins can directly recruit autophagy components. We also noticed that the extracellular part of ACE2 has a conserved MIDAS structural motif, which are commonly used by beta integrins for ligand binding, potentially supporting the proposal that integrins and ACE2 share common ligands. The findings presented here identify several molecular links and testable hypotheses that might help uncover the mechanisms of SARS-CoV-2 attachment, entry and replication, and strengthen the possibility that it might be possible to develop host-directed therapies to dampen the efficiency of viral entry and hamper disease progression. The strong sequence conservation means that these putative SLiMs are good candidates: Nevertheless, SLiMs must always be validated by experimentation before they can be stated to be functional. Comment: 38 pages, 7 figures, 2 tables. Corresponding authors are Luc\'ia B. Chemes, Toby J. Gibson
Keywords	Quantitative Biology - Biomolecules
Subject code	570
Publishing date	2020-04-21
Publishing country	us
Document type	Book ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: True hermaphroditism in a phenotypic male without ambiguous genitalia: an unusual presentation at puberty.

Alonso, Guillermo / Pasqualini, Titania / Busaniche, Julio / Ruiz, Eduardo / Chemes, Héctor

Hormone research

2007 Volume 68, Issue 5, Page(s) 261–264

Abstract: True hermaphroditism usually appears with ambiguous genitalia requiring extensive evaluation during the neonatal period. There have been occasional cases with better differentiation of external genitalia, leading to delays in diagnosis. We report the ... ...

Abstract	True hermaphroditism usually appears with ambiguous genitalia requiring extensive evaluation during the neonatal period. There have been occasional cases with better differentiation of external genitalia, leading to delays in diagnosis. We report the case of an adolescent boy with true hermaphroditism who presented with normal external genitalia and no sexual ambiguity. He was referred due to progressive gynecomastia and arrest of puberty. He presented at the age of 16 years for gynecomastia of rapid progression with normal penile development and both gonads in scrotum and normal testosterone and increased gonadotropin levels. Gonadal ultrasound scan was compatible with testicular and ovarian tissues in scrotum, and the karyotype showed two cellular lines (46,XX/46,XY). Gonadal histology revealed bilateral ovotestes. A genotype polymerase chain reaction mediated analysis using seven microsatellite markers did not confirm chimerism. Clinical findings and mechanism of generation are discussed.
MeSH term(s)	Adolescent ; Chimera ; Genitalia, Male/physiology ; Gynecomastia/diagnosis ; Humans ; Male ; Ovotesticular Disorders of Sex Development/diagnosis ; Phenotype ; Puberty/physiology
Language	English
Publishing date	2007
Publishing country	Switzerland
Document type	Case Reports ; Journal Article
ZDB-ID	124442-5
ISSN	1423-0046 ; 0301-0163
ISSN (online)	1423-0046
ISSN	0301-0163
DOI	10.1159/000102693
Database	MEDical Literature Analysis and Retrieval System OnLINE

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