Results 31 to 40 of about 3,493 (177)

The β integrin modulates serotonin sensitivity via NPxY motifs to regulate egg laying and mechanosensation behaviors in Caenorhabditis elegans

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Background Integrin is an αβ heterodimeric receptor to the extracellular matrix; its binding to the matrix recruits focal adhesions to two NPxY motifs, the tyrosine phosphorylation sites in the cytoplasmic domain. Studies found that replacing tyrosines (Y) with phenylalanines (F) in the motif of β1 integrin displayed little developmental or ...
Josh Haram Bumm   +7 more
wiley   +1 more source

Goofy/123Cre lineage tracing differentiates olfactory and vomeronasal neurons from GnRH‐1 and terminal nerve neurons during neuronal migration and reveals additional olfactory placode‐derived cells in the brain

open access: yesDevelopmental Dynamics, EarlyView.
Abstract The olfactory placode (OP) generates a broad array of chemosensory neurons in the nasal region, including olfactory sensory neurons, vomeronasal sensory neurons, neurons of the septal organ, and Grueneberg ganglion. During invagination, the OP also generates migratory neuronal populations, including gonadotropin‐releasing hormone‐1 (GnRH‐1 ...
Enrico Amato Jr.   +5 more
wiley   +1 more source

Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome

open access: yesCase Reports in Pediatrics, 2019
Mosaicism brings great variability into the clinical expression of numerical and structural chromosomal abnormalities. The phenotypic variability of 45,X/46,XY mosaicism extends from Turner syndrome to apparently physically normal males.
Catarina Silvestre   +5 more
doaj   +1 more source

Ozone‐driven degradation of sex pheromone in Plutella xylostella: Implications for reproductive communication and mating success

open access: yesInsect Science, EarlyView.
In this study, we examined whether realistic ozone concentrations can interfere with sexual communication in the insect pest Plutella xylostella, the diamondback moth. Ozone exposure caused a degradation of pheromone components, leading to significant changes in blend composition and component ratios.
Francesco Sorrentino   +3 more
wiley   +1 more source

Osteogenesis imperfecta in a family with a novel variant in the COL1A1 gene and gonadal mosaicism: a clinical case

open access: yesБюллетень сибирской медицины
Osteogenesis imperfecta (OI) is a clinically heterogeneous genetic disorder whose primary clinical manifestations include susceptibility to recurrent pathological fractures and progressive skeletal deformities.
K. G. Zabudskaya   +3 more
doaj   +1 more source

Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation

open access: yesBMC Medical Genetics, 2011
Background Epidermal nevi (EN) represent benign congenital skin lesions following the lines of Blaschko. They result from genetic mosaicism, and activating FGFR3 and PIK3CA mutations have been implicated. Case presentation We report a female patient with
Clemmensen Ole J   +4 more
doaj   +1 more source

X/XYq - mosaicism and mixed gonadal dysgenesis. [PDF]

open access: yesJournal of Medical Genetics, 1977
A non-fluorescent Y chromosome was observed in a phenotypic male with 45,X/46,XYq-mosaicism and mixed gonadal dysgenesis. Q-banding of the father's chromosomes showed a normally fluorescent Y. Measurements of the Y chromosomes in the father and the patient showed a significant difference in length.
E, Yunis   +3 more
openaire   +2 more sources

Limited Clinical Impact of Androgen Receptor Repeat Length (CAG and GGC) in Klinefelter Syndrome: A Multivariable Analysis

open access: yesAndrology, EarlyView.
ABSTRACT Background Klinefelter syndrome (KS) is characterized by marked phenotypic heterogeneity that might be influenced by genetic modifiers, including androgen receptor (AR) repeat length (CAGn and GGCn). The clinical relevance of these repeat lengths in patients with KS before testosterone replacement therapy (TRT) remains unclear.
Andrea Graziani   +8 more
wiley   +1 more source

Swyer syndrome: The gender swayer?

open access: yesAlexandria Journal of Medicine, 2017
46XY complete gonadal dysgenesis (SWYER SYNDROME) is a rare type of Disorder of Sex Development. Herein we report a 15 years-old child, reared as female, presented with complaints of primary amenorrhoea, without short stature or Turner’s stigmata ...
Jaideep Khare   +3 more
doaj   +1 more source

Neoplastic Risk in Patients With Klinefelter Syndrome

open access: yesAndrology, EarlyView.
ABSTRACT Background Besides gonadal involvement (hypogonadism, male factor infertility, and testicular hypotrophy), patients with Klinefelter syndrome (KS) may suffer from several extra‐gonadic complications, including neoplastic events. Objective The aim of this review is to summarize all major clinical evidence dealing with the association between KS
Andrea Graziani   +4 more
wiley   +1 more source

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