33 Result(s)
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Ewa Rajpert-De Meyts
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Article
Open AccessX‑chromosome loss rescues Sertoli cell maturation and spermatogenesis in Klinefelter syndrome
Klinefelter syndrome (47,XXY) causes infertility with a testicular histology comprising two types of Sertoli cell-only tubules, representing mature and immature-like Sertoli cells, and occasionally focal sperm...
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Article
Open AccessDiverse monogenic subforms of human spermatogenic failure
Non-obstructive azoospermia (NOA) is the most severe form of male infertility and typically incurable. Defining the genetic basis of NOA has proven challenging, and the most advanced classification of NOA subf...
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Article
Open AccessIdentification of a window of androgen sensitivity for somatic cell function in human fetal testis cultured ex vivo
Reduced androgen action during early fetal development has been suggested as the origin of reproductive disorders comprised within the testicular dysgenesis syndrome (TDS). This hypothesis has been supported b...
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Article
Open AccessIdentification of 22 susceptibility loci associated with testicular germ cell tumors
Testicular germ cell tumors (TGCT) are the most common tumor in young white men and have a high heritability. In this study, the international Testicular Cancer Consortium assemble 10,156 and 179,683 men with ...
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Article
Evaluating genetic causes of azoospermia: What can we learn from a complex cellular structure and single-cell transcriptomics of the human testis?
Azoospermia is a condition defined as the absence of spermatozoa in the ejaculate, but the testicular phenotype of men with azoospermia may be very variable, ranging from full spermatogenesis, through arrested...
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Diagnosis and Management of Testicular Tumours in Children and Adolescents
Testicular tumours can occur at any age but are most common in adolescents and young men. The tumours are histologically heterogeneous and can be derived from several cell types. Germ cells are by far the most...
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Article
Application of miRNAs in the diagnosis and monitoring of testicular germ cell tumours
Testicular germ cell tumours (TGCTs) are the most frequent cancer type in young men and originate from the common precursor germ cell neoplasia in situ (GCNIS). For decades, clinical management of patients wit...
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Article
Open AccessAuthor Correction: Characterisation and localisation of the endocannabinoid system components in the adult human testis
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Article
Open AccessCharacterisation and localisation of the endocannabinoid system components in the adult human testis
Heavy use of cannabis (marijuana) has been associated with decreased semen quality, which may reflect disruption of the endocannabinoid system (ECS) in the male reproductive tract by exogenous cannabinoids. Co...
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Article
Open AccessTranscriptome analysis of the adult human Klinefelter testis and cellularity-matched controls reveals disturbed differentiation of Sertoli- and Leydig cells
The most common human sex chromosomal disorder is Klinefelter syndrome (KS; 47,XXY). Adult patients with KS display a diverse phenotype but are nearly always infertile, due to testicular degeneration at pubert...
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Article
Open AccessPolymorphisms in JMJD1C are associated with pubertal onset in boys and reproductive function in men
JMJD1C, a member of the Jumonji-domain containing histone demethylases protein family, has been associated with levels of sex-hormone binding globulin (SHBG) and testosterone in men, and knock-out rodent model...
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Article
Involvement of the DNA mismatch repair system in cisplatin sensitivity of testicular germ cell tumours
Testicular germ cell tumours (TGCT) are highly sensitive to cisplatin-based chemotherapy, but patients with tumours containing differentiated teratoma components are less responsive to this treatment. The cisp...
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Article
Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor
Katherine Nathanson, Peter Kanetsky and colleagues present a meta-analysis of five genome-wide association studies of testicular germ cell tumor (TGCT). They identify eight new susceptibility loci and new inde...
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Reference Work Entry In depth
Histopathological Evaluation of Testicular Biopsy
The histopathological evaluation of a testicular biopsy is a very important part of the diagnostic workup of andrological patients with azoospermia or severe oligozoospermia as well as men at risk for germ cel...
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Living Reference Work Entry In depth
Histopathological Evaluation of Testicular Biopsy
The histopathological evaluation of a testicular biopsy is a very important part of the diagnostic workup of andrological patients with azoospermia or severe oligozoospermia as well as men at risk for germ cel...
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Article
Leydig cell clustering and Reinke crystal distribution in relation to hormonal function in adult patients with testicular dysgenesis syndrome (TDS) including cryptorchidism
Testicular dysgenesis syndrome (TDS) comprises testicular germ cell cancer, cryptorchidism and some cases of male infertility and hypospadias, which can be linked to impairment of intrauterine gonadal developm...
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Article
Open AccessErratum: Polygenic susceptibility to testicular cancer: implications for personalised health care
Correction to: British Journal of Cancer (2015) 113, 1512–1518. doi:10.1038/bjc.2015.334; published online 13 October 2015 Updated online 26 May 2016: This article was originally published under a CC BY-NC-SA ...
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Article
Open AccessPolygenic susceptibility to testicular cancer: implications for personalised health care
The increasing incidence of testicular germ cell tumour (TGCT) combined with its strong heritable basis suggests that stratified screening for the early detection of TGCT may be clinically useful. We modelled ...
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Article
Expression pattern of clinically relevant markers in paediatric germ cell- and sex-cord stromal tumours is similar to adult testicular tumours
Paediatric germ cell tumours (GCTs) are rare and account for less than 3 % of childhood cancers. Like adult GCTs, they probably originate from primordial germ cells, but the pattern of histopathological types ...
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Article
Open AccessPubertal Onset in Girls is Strongly Influenced by Genetic Variation Affecting FSH Action
Age at pubertal onset varies substantially in healthy girls. Although genetic factors are responsible for more than half of the phenotypic variation, only a small part has been attributed to specific genetic p...
