Mutation of <i>GALNTL5</i> gene identified in patients diagnosed with asthenozoospermia

Asthenozoospermia is commonly observed in infertile men. However, very few causative gene mutations have been identified because an efficient detection method has not been established. We previously identified a patient with asthenozoospermia carrying a heterozygous point deletion in GALNTL5 by detecting an abnormal reduction in the abundance of GALNTL5 and other marker proteins. To identify other mutations in GALNTL5, we screened sperm samples from 208 infertile men mainly diagnosed with asthenozoospermia using the same method, and conducted next-generation sequencing. Consequently, another case of GALNTL5 mutation was detected only in sperm at a low frequency but not in the somatic blood cells of a patient diagnosed with asthenozoospermia. In this patient, sperm motility improved and the mutation disappeared at 2 years after the first observation. In this man, carrying a heterozygotic deficiency of GALNTL5, the swim-up method was useful to concentrate the spermatozoa without mutation. Intracytoplasmic sperm injection of the selected motile spermatozoa into oocytes of the patient’s partner resulted in successful conception, and a female child was safely delivered. These results suggest the feasibility of our approach for the screening and treatment of asthenozoospermia associated with GALNTL5 mutation.</p

MOESM2 of Aggressive prostate cancer with somatic loss of the homologous recombination repair gene FANCA: a case report

Additional file 2: Materials and Methods

MOESM1 of Aggressive prostate cancer with somatic loss of the homologous recombination repair gene FANCA: a case report

Additional file 1: Figure S1. Time course of the patient’s PSA level and treatment

Additional file 1 of Optimal surgical treatment for paratesticular leiomyosarcoma: retrospective analysis of 217 reported cases

Additional file 1

Supplementary Figure S2 from Androgen Receptor Signaling Reduces Radiosensitivity in Bladder Cancer

Expression of DNA repair genes in irradiated AR-negative bladder cancer cells.</p

Additional file 1 of Multiple metastases of androgen indifferent prostate cancer in the urinary tract: two case reports and a literature review

Additional file 1. How to perform the targeted next-generation sequencing using an in-house assay of the resected specimen

Supplementary Table S1 from Androgen Receptor Signaling Reduces Radiosensitivity in Bladder Cancer

Sequences of PCR primers.</p

Supplementary Figure S3 from Androgen Receptor Signaling Reduces Radiosensitivity in Bladder Cancer

Effects of inhibitors of DNA repair on the cytotoxicity of irradiation in bladder cancer cells.</p

Supplementary Figure S1 from Androgen Receptor Signaling Reduces Radiosensitivity in Bladder Cancer

The expression and transcriptional activity of AR in bladder cancer sublines.</p

Additional file 1 of A Japanese case of castration-resistant prostate cancer with BRCA2 and RB1 co-loss and TP53 mutation: a case report

Additional file1. Immunohistochemical staining of transurethral resection samples. (A) Tumor protein p53. (B) Retinoblastoma transcriptional corepressor. (C) Androgen receptor. (D) Prostate-specific antigen. (E) Synaptophysin. (F) Chromogranin A. (G) Cluster of differentiation 56. (H) Glioma-associated oncogene family zinc finger 1. The bars show 100μm