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http://dx.doi.org/10.1093/ndt/gfl023 | DOI Listing |
J Cell Biol
April 2025
Department of Genetics and Cell Biology, College of Life Sciences, State Key Laboratory of Medicinal Chemical Biology, Nankai University, Tianjin, China.
TBC1D20 deficiency causes Warburg Micro Syndrome in humans, characterized by multiple eye abnormalities, severe intellectual disability, and abnormal sexual development, but the molecular mechanisms remain unknown. Here, we identify TBC1D20 as a novel Rab11 GTPase-activating protein that coordinates vesicle transport and actin remodeling to regulate ciliogenesis. Depletion of TBC1D20 promotes Rab11 vesicle accumulation and actin deconstruction around the centrosome, facilitating the initiation of ciliogenesis even in cycling cells.
View Article and Find Full Text PDFJ Sex Marital Ther
January 2025
Clinical Research Department, Elexial Research, Urology, Boston Medical Group, Bogotá, Colombia.
In this study, data from 7,440 patients from six Ibero-American countries were analyzed, focusing on men who consulted for erectile dysfunction (ED). Participants were queried about infidelity in their relationships. Results showed a negative correlation between infidelity and the severity of ED, suggesting that the likelihood of infidelity decreases as the severity of ED increases.
View Article and Find Full Text PDFBackground: Differential diagnosis of hypogonadotropic hypogonadism (HH) and constitutional delay of puberty (CDP) is extremely important since with the latter puberty begins and completes without any medical intervention and in the case of HH puberty does not occur or is incomplete. Failure to start treatment on time leads to medical and psychosocial maladjustment of the patient.
Aim: Development of a method for differential diagnosis of hypogonadotropic hypogonadism and constitutional delay of puberty in boys 13.
Introduction: CarboxypeptidaseE (CPE) is an enzyme involved in the neuropepetides/hormones processing. Its deficiency is associated with endocrinopathies comparable to those caused by proprotein convertase1/3(PC1/3) deficiency. In this case report we expand the clinical features of CPE deficiency by examining the index case's clinical/laboratory results, which are also indicative of PC1/3 deficiency.
View Article and Find Full Text PDFContraception
January 2025
Division of Endocrinology, Department of Medicine, The Lundquist Institute at Harbor-UCLA Medical Center, Torrance, California; Clinical and Translational Science Institute, The Lundquist Institute at Harbor-UCLA Medical Center, Torrance, California.
While there are several easy-to-use reversible female contraceptives, little is available for men. Introduction of novel, cost-effective male contraceptives could have important downstream global health and economic benefits. Currently, nearly half of all pregnancies globally are unintended, with many resulting in unsafe abortions, a significant burden for women and families in many countries.
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