Publications by authors named "Inge Lore Ruiz Arana"
Article Synopsis
- NCKAP1/NAP1 is crucial for neuronal development and impacts cytoskeletal dynamics in the brain; disruptions can lead to conditions like autism spectrum disorder (ASD) and intellectual disability.
- This research analyzes genetic data from 21 individuals with harmful NCKAP1 variants, reporting a correlation with neurodevelopmental disorders such as ASD, language delays, and motor skill issues.
- Findings indicate that NCKAP1 is highly expressed in brain development stages, particularly in excitatory neurons, and its loss-of-function may hinder neuronal migration, linking it to ASD and associated delays.
Polycystic ovary syndrome (PCOS) is frequent during adolescence (prevalence ≈ 6 %), and the prevalence increases in obese or type 1 diabetic (T1D) adolescent girls. During puberty, PCOS diagnosis is difficult because of the overlap with some pubertal physiologic signs. The 2017 international consortium suggests two required diagnostic criteria: persistent menstrual disturbances and hyperandrogenism.
View Article and Find Full Text PDFMAMLD1 is suggested to play a role in the development of 46,XY disorders of sexual development (46,XY DSD). So far, mutations in this gene have been detected in several cases of hypospadias with normal testosterone levels at birth. From in vitro studies it was concluded that Mamld1 might transiently affect testosterone synthesis during genital development.
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