The Developmental Mechanisms of Genes Affecting the Axial Skeleton of the Mouse

1957 ◽  
Vol 91 (857) ◽  
pp. 95-102 ◽  
Author(s):  
Hans Gruneberg
2016 ◽  
Author(s):  
Barbara Tymczyna ◽  
Marcin Tatara ◽  
Monika Tymczyna-Sobotka ◽  
Witold Krupski ◽  
Anna Szabelska

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1149
Author(s):  
Glenda M. Beaman ◽  
Raimondo M. Cervellione ◽  
David Keene ◽  
Heiko Reutter ◽  
William G. Newman

The bladder exstrophy–epispadias complex (BEEC) is an abdominal midline malformation comprising a spectrum of congenital genitourinary abnormalities of the abdominal wall, pelvis, urinary tract, genitalia, anus, and spine. The vast majority of BEEC cases are classified as non-syndromic and the etiology of this malformation is still unknown. This review presents the current knowledge on this multifactorial disorder, including phenotypic and anatomical characterization, epidemiology, proposed developmental mechanisms, existing animal models, and implicated genetic and environmental components.


Author(s):  
Pooja Khurana ◽  
Neil R. Smyth ◽  
Bhavwanti Sheth ◽  
Miguel A. Velazquez ◽  
Judith J. Eckert ◽  
...  

Abstract Advanced maternal age (AMA) is known to reduce fertility, increases aneuploidy in oocytes and early embryos and leads to adverse developmental consequences which may associate with offspring lifetime health risks. However, investigating underlying effects of AMA on embryo developmental potential is confounded by the inherent senescence present in maternal body systems further affecting reproductive success. Here, we describe a new model for the analysis of early developmental mechanisms underlying AMA by the derivation and characterisation of mouse embryonic stem cell (mESC-like) lines from naturally conceived embryos. Young (7–8 weeks) and Old (7–8 months) C57BL/6 female mice were mated with young males. Preimplantation embryos from Old dams displayed developmental retardation in blastocyst morphogenesis. mESC lines established from these blastocysts using conventional techniques revealed differences in genetic, cellular and molecular criteria conserved over several passages in the standardised medium. mESCs from embryos from AMA dams displayed increased incidence of aneuploidy following Giemsa karyotyping compared with those from Young dams. Moreover, AMA caused an altered pattern of expression of pluripotency markers (Sox2, OCT4) in mESCs. AMA further diminished mESC survival and proliferation and reduced the expression of cell proliferation marker, Ki-67. These changes coincided with altered expression of the epigenetic marker, Dnmt3a and other developmental regulators in a sex-dependent manner. Collectively, our data demonstrate the feasibility to utilise mESCs to reveal developmental mechanisms underlying AMA in the absence of maternal senescence and with reduced animal use.


2019 ◽  
Vol 234 (12) ◽  
pp. 23360-23368 ◽  
Author(s):  
Joonho Suh ◽  
Je‐Hyun Eom ◽  
Na‐Kyung Kim ◽  
Kyung Mi Woo ◽  
Jeong‐Hwa Baek ◽  
...  

2006 ◽  
Vol 123 (4) ◽  
pp. 312-320 ◽  
Author(s):  
Mar Lorente ◽  
Claudia Pérez ◽  
Carmen Sánchez ◽  
Mary Donohoe ◽  
Yang Shi ◽  
...  

PLoS ONE ◽  
2014 ◽  
Vol 9 (5) ◽  
pp. e98507 ◽  
Author(s):  
Sarah Beck-Cormier ◽  
Marie Escande ◽  
Céline Souilhol ◽  
Sandrine Vandormael-Pournin ◽  
Sophie Sourice ◽  
...  

2009 ◽  
Vol 36 (3) ◽  
pp. 609-613 ◽  
Author(s):  
RUKMINI M. KONATALAPALLI ◽  
PAUL J. DEMARCO ◽  
JAMES S. JELINEK ◽  
MARK MURPHEY ◽  
MICHAEL GIBSON ◽  
...  

Objective.Gout typically affects the peripheral joints of the appendicular skeleton and rarely involves the axial joints. The literature on axial gout is limited to case reports and case series. This preliminary study was conducted to identify the frequency and characteristics of axial gout.Methods.Six hundred thirty medical records with ICD codes 274.0, 274.82, and 274.9 for peripheral gout were reviewed. Ninety-two patients had clinical or crystal-proven gout, of which 64 had prior computed tomography (CT) images of the spine performed for various medical reasons. These CT images were reviewed for features of axial gout, which include vertebral erosions mainly at the discovertebral junction and the facet joints, deposits of tophi, and erosions in the vertebral body, epidural space, ligamentum flavum and pars interarticularis.Results.Nine of the 64 patients had radiographic changes suggestive of axial gout. Lumbar vertebrae were most commonly involved, with facet joint erosions being the most common finding. Isolated involvement of the sacroiliac joints was seen in 2 patients. Axial gout had been diagnosed clinically in only one patient.Conclusion.Radiologic changes of axial gout were more common than recognized clinically, with a frequency of 14%. Since not all patients had CT images, it is possible that the frequency of axial involvement was even greater. A prospective study is needed to further define this process.


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