Elena Casamonti
University of Florence
SpermatogenesisSpermGeneticsGene dosageBiology
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Publications 6
#1Daniel Moreno-Mendoza (Autonomous University of Barcelona)H-Index: 2
#2Elena Casamonti (UniFI: University of Florence)H-Index: 2
Last. Csilla Krausz (UniFI: University of Florence)H-Index: 53
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The association between impaired spermatogenesis and TGCT has stimulated research on shared genetic factors. Y chromosome-linked partial AZFc deletions predispose to oligozoospermia and were also studied in TGCT patients with controversial results. In the largest study reporting the association between gr/gr deletion and TGCT, sperm parameters were unknown. Hence, it remains to be established whether this genetic defect truly represents a common genetic link between TGCT and impaired sperm produ...
1 CitationsSource
#1Francesca Cioppi (UniFI: University of Florence)H-Index: 2
#2Elena Casamonti (UniFI: University of Florence)H-Index: 2
Last. Csilla Krausz (UniFI: University of Florence)H-Index: 53
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Spermatogenesis is a highly complex biological process during which germ cells undergo recurrent rounds of DNA replication and cell division that may predispose to random mutational events. Hence, germ cells are vulnerable to the introduction of a range of de novo mutations, in particular chromosomal aberrations, point mutations and small indels. The main mechanisms through which mutations may occur during spermatogenesis are (i) errors in DNA replication, (ii) inefficient repair of non-replicat...
1 CitationsSource
#1Csilla Krausz (UniFI: University of Florence)H-Index: 53
#2Elena Casamonti (UniFI: University of Florence)H-Index: 2
The Y chromosome harbors a number of genes essential for testis development and function. Its highly repetitive structure predisposes this chromosome to deletion/duplication events and is responsible for Y-linked copy-number variations (CNVs) with clinical relevance. The AZF deletions remove genes with predicted spermatogenic function en block and are the most frequent known molecular causes of impaired spermatogenesis (5–10% of azoospermic and 2–5% of severe oligozoospermic men). Testing for th...
28 CitationsSource
#1Elena Casamonti (UniFI: University of Florence)H-Index: 2
#2Serena Vinci (UniFI: University of Florence)H-Index: 9
Last. Csilla Krausz (UniFI: University of Florence)H-Index: 53
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Summary The standard FSH treatment is based on a 3 months period, after which both quantitative/qualitative improvement of sperm parameters and increased pregnancy rate were reported. In this prospective clinical trial, for the first time, we studied (i) Sperm hyaluronic acid binding capacity after highly purified FSH (hpFSH) treatment; (ii) the effect after short-term and standard treatment on this functional parameter. As secondary objective, we analyzed three SNPs on FSHβ and FSHR genes to de...
12 CitationsSource
#1Tibor VaszkóH-Index: 2
#2JanosPappH-Index: 26
Last. Edith OlahH-Index: 39
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Due to its palindromic setup, AZFc (Azoospermia Factor c) region of chromosome Y is one of the most unstable regions of the human genome. It contains eight gene families expressed mainly in the testes. Several types of rearrangement resulting in changes in the cumulative copy number of the gene families were reported to be associated with diseases such as male infertility and testicular germ cell tumors. The best studied AZFc rearrangement is gr/gr deletion. Its carriers show widespread phenotyp...
1 CitationsSource
#1Csilla KrauszH-Index: 53
#2Elena CasamontiH-Index: 2
Last. E. SerraH-Index: 3
view all 7 authors...