Hum. Mutat. 2020 Jan 30
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss and reduced male fertility.
Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T, De Jaegere S, Guillemyn B, De Rycke R, De Bleecker J, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F
Inactivating variants in the centrosomal CEP78 gene have been found in cone-rod dystrophy with hearing loss (CRDHL), a particular phenotype distinct f ...
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Source: PubMed
Hum. Reprod.
Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia.
Oud MS, Okutman Ö, Hendricks LAJ, de Vries PF, Houston BJ, Vissers LELM, O'Bryan MK, Ramos L, Chemes HE, Viville S, Veltman JA
Can exome sequencing identify new genetic causes of globozoospermia? ...
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Source: PubMed
J. Histochem. Cytochem. 2020 Jan 27
Sertoli Cell Alterations in Peripubertal Varicocelized Rats: Evidence of Primary Damage on Spermatogenesis.
Vaz ADC, Paccola CC, Mendes TB, Cabral REL, Simas JN, Vendramini V, Miraglia SM
Idiopathic varicocele is closely associated with male infertility or subfertility. Sertoli cell is a very important regulator of spermatogenesis. We i ...
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Source: PubMed
J. Assist. Reprod. Genet. 2020 Jan 25
Decreased expression of MRE11 and RAD50 in testes from humans with spermatogenic failure.
Hu M, Li L, Liu S, Lou Y, Wang L, Le F, Li H, Wang Q, Lou H, Wang N, Jin F
To assess testicular mRNA and protein expression levels of MRE11 and RAD50 in human azoospermia patients. ...
Read More
Source: PubMed
Cell Death Differ. 2020 Jan 21
NBS1 is required for SPO11-linked DNA double-strand break repair in male meiosis.
Zhang B, Tang Z, Li L, Lu LY
DNA double-strand breaks (DSBs) pose a serious threat to genomic stability. Paradoxically, hundreds of programed DSBs are generated by SPO11 in meioti ...
Read More
Source: PubMed
Hum. Mutat. 2020 Jan 30
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss and reduced male fertility.
Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T, De Jaegere S, Guillemyn B, De Rycke R, De Bleecker J, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F
Inactivating variants in the centrosomal CEP78 gene have been found in cone-rod dystrophy with hearing loss (CRDHL), a particular phenotype distinct f ...
Read More
Source: PubMed
Hum. Reprod.
Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia.
Oud MS, Okutman Ö, Hendricks LAJ, de Vries PF, Houston BJ, Vissers LELM, O'Bryan MK, Ramos L, Chemes HE, Viville S, Veltman JA
Can exome sequencing identify new genetic causes of globozoospermia? ...
Read More
Source: PubMed
J. Histochem. Cytochem. 2020 Jan 27
Sertoli Cell Alterations in Peripubertal Varicocelized Rats: Evidence of Primary Damage on Spermatogenesis.
Vaz ADC, Paccola CC, Mendes TB, Cabral REL, Simas JN, Vendramini V, Miraglia SM
Idiopathic varicocele is closely associated with male infertility or subfertility. Sertoli cell is a very important regulator of spermatogenesis. We i ...
Read More
Source: PubMed
J. Assist. Reprod. Genet. 2020 Jan 25
Decreased expression of MRE11 and RAD50 in testes from humans with spermatogenic failure.
Hu M, Li L, Liu S, Lou Y, Wang L, Le F, Li H, Wang Q, Lou H, Wang N, Jin F
To assess testicular mRNA and protein expression levels of MRE11 and RAD50 in human azoospermia patients. ...
Read More
Source: PubMed
Cell Death Differ. 2020 Jan 21
NBS1 is required for SPO11-linked DNA double-strand break repair in male meiosis.
Zhang B, Tang Z, Li L, Lu LY
DNA double-strand breaks (DSBs) pose a serious threat to genomic stability. Paradoxically, hundreds of programed DSBs are generated by SPO11 in meioti ...
Read More
Source: PubMed
