WHO laboratory manual for the examination and processing of human semen

https://www.pedneur.com/article/S0887-8994%2813%2900490-6/pdf

Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

Background Congenital bilateral absence of the vas deferens (CBAVD) is a form of male infertility in which mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been identified. The molecular basis of CBAVD is not completely understood. Although patients with cystic fibrosis have mutations in both copies of the CFTR gene, most patients with CBAVD have mutations in only one copy of the gene. Methods To investigate CBAVD at the molecular level, we have characterized the mutations in the CFTR gene in 102 patients with this condition. None had clinical manifestations of cystic fibrosis. We also analyzed a DNA variant (the 5T allele) in a noncoding region of CFTR that causes reduced levels of the normal CFTR protein. Parents of patients with cystic fibrosis, patients with types of infertility other than CBAVD, and normal subjects were studied as controls. Results Nineteen of the 102 patients with CBAVD had mutations in both copies of the CFTR gene, and none of them had the 5T al...

/pdf/mutations-in-the-cystic-fibrosis-gene-in-patients-with-3m8jr8jfg7.pdf

Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens

https://www.pedneur.com/article/S0887-8994%2813%2900491-8/pdf

Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

The BTB domain (also known as the POZ domain) is a versatile protein-protein interaction motif that participates in a wide range of cellular functions, including transcriptional regulation, cytoskeleton dynamics, ion channel assembly and gating, and targeting proteins for ubiquitination. Several BTB domain structures have been experimentally determined, revealing a highly conserved core structure. We surveyed the protein architecture, genomic distribution and sequence conservation of BTB domain proteins in 17 fully sequenced eukaryotes. The BTB domain is typically found as a single copy in proteins that contain only one or two other types of domain, and this defines the BTB-zinc finger (BTB-ZF), BTB-BACK-kelch (BBK), voltage-gated potassium channel T1 (T1-Kv), MATH-BTB, BTB-NPH3 and BTB-BACK-PHR (BBP) families of proteins, among others. In contrast, the Skp1 and ElonginC proteins consist almost exclusively of the core BTB fold. There are numerous lineage-specific expansions of BTB proteins, as seen by the relatively large number of BTB-ZF and BBK proteins in vertebrates, MATH-BTB proteins in Caenorhabditis elegans, and BTB-NPH3 proteins in Arabidopsis thaliana. Using the structural homology between Skp1 and the PLZF BTB homodimer, we present a model of a BTB-Cul3 SCF-like E3 ubiquitin ligase complex that shows that the BTB dimer or the T1 tetramer is compatible in this complex. Despite widely divergent sequences, the BTB fold is structurally well conserved. The fold has adapted to several different modes of self-association and interactions with non-BTB proteins.

/pdf/sequence-and-structural-analysis-of-btb-domain-proteins-411cscpwvd.pdf

Sequence and structural analysis of BTB domain proteins

Abnormal distribution of CF ΔF508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens

In this article we review renal angiomyolipomas (AMLs) from cases in the world literature and 60 cases from our own institution. We also analyze the role and the place of the various imaging techniques in the detection and diagnosis of AMLs. Discussion is focused on the natural history of this benign neoplasm as an isolated form or as a part of the tuberous sclerosis (TS) complex or as part of a third less certain group of multiple AML without stigmata of TS. We also consider the growth patterns and hemorrhagic risks of AML to help define an approach to the current management of this lesion.

Imaging of angiomyolipomas

Utility of cytokeratin 7 for distinguishing chromophobe renal cell carcinoma from renal oncocytoma.

The nucleus of mammalian spermatozoa is surrounded by a rigid layer, the perinuclear theca, which is divided into a subacrosomal layer and a postacrosomal calyx. Among the proteins characterized in the perinuclear theca, calicin is one of the main components of the calyx. Its sequence contains three kelch repeats and a BTB/POZ domain. We have studied the association of boar calicin with F-actin and the distribution of boar and human calicin during spermiogenesis compared with the distribution of actin. Calicin was purified from boar sperm heads under nondenaturating conditions. The molecule bound actin with high affinity (Kd 5 ;5 nM), and a stoichiometry of approximately one calicin per 12 actin monomers was observed. Gel filtration studies showed that calicin forms homomultimers (tetramers and higher polymers). According to immunocytochemical results, calicin is present (together with actin) in the acrosomal region of round spermatids and is mainly localized in the postacrosomal region of late spermatids and spermatozoa. Taken together, the results suggest that the affinity of calicin to F-actin allows targeting of calicin at the subacrosomal space of round spermatids, and that its ability to form homomultimers contributes to the formation of a rigid calyx. sperm, spermatid, spermatogenesis, testes

https://bioone.org/journals/biology-of-reproduction/volume-63/issue-6/biolreprod63.6.1801/Actin-Binding-Properties-and-Colocalization-with-Actin-During-Spermiogenesis-of/10.1095/biolreprod63.6.1801.pdf

E. Mazeman

Papers

Abnormal distribution of CF ΔF508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens

Imaging of angiomyolipomas

Utility of cytokeratin 7 for distinguishing chromophobe renal cell carcinoma from renal oncocytoma.

Actin-Binding Properties and Colocalization with Actin During Spermiogenesis of Mammalian Sperm Calicin

Bard® BTA® test compared with voided urine cytology in the diagnosis of recurrent bladder cancer