Results 51 to 60 of about 102,083 (311)

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Canine and feline foetal fluids: Volume, hormonal and biochemical characterization during pregnancy

Veterinary Medicine and Science
Background and objectives This study aimed to evaluate the volume, the concentration of steroid hormones, and biochemical composition of the foetal fluids at different gestational ages in dogs and cats.
Hossein Sahraei, Asghar Mogheiseh, Saeed Nazifi, Mohammad‐Reza Divar, Fatemeh Iraji   +4 more
doaj   +1 more source

Amniotic fluid brain-specific proteins are biomarkers for spinal cord injury in experimental myelomeningocele [PDF]

, 2005
Myelomeningocele (MMC), the most severe form of spina bifida (SB), causes neurological deficit. Injury to the spinal cord is thought to begin in utero. We investigated whether brain-specific proteins (BSPs) would enable us to monitor the development of ...
Stiefel, D, Copp, AJ, Petzold, A
core  

Characterization of the extracellular matrix from human and dog umbilical cords

The Anatomical Record, EarlyView.
Abstract The extracellular matrix is important for maintaining tissue morphogenesis and homeostasis; it can also be used as a biomaterial for the production of biological scaffolds. Particularly, the umbilical cord has shown potential in the production of scaffolds for small‐diameter vessels.
Ana Carla Mendonça, Roberta Losi Guembarovski, Carlos Alberto Miqueloto, Alda Fiorina Maria Losi Guembarovski, Caio Garcia Barbosa da Silva, Laís Capelasso Lucas Pinheiro, Phelipe Oliveira Favaron   +6 more
wiley   +1 more source

IgGFc-binding protein in pregnancies complicated by spontaneous preterm delivery: a retrospective cohort study

Scientific Reports, 2021
To determine the IgGFc-binding protein (FcgammaBP) concentration in amniotic and cervical fluids in preterm prelabor rupture of membranes (PPROM) and preterm labor with intact membranes (PTL) and to assess the diagnostic indices of FcgammaBP to predict ...
Jaroslav Stranik, Marian Kacerovsky, Ondrej Soucek, Martina Kolackova, Ivana Musilova, Lenka Pliskova, Radka Bolehovska, Pavel Bostik, Jana Matulova, Bo Jacobsson, Ctirad Andrys   +10 more
doaj   +1 more source

First reports on the relationship between the eggshell and bone mineralization in Rhinoclemmys punctularia punctularia embryos

The Anatomical Record, EarlyView.
Abstract Composed of various minerals, the eggshell provides ideal conditions for embryonic development, and understanding its composition and structure is essential for clarifying its relationship with bone formation. This study characterized the structure and mineral profile of the Rhinoclemmys punctularia punctularia eggshell in relation to ...
Igor Mathias Trindade Lemos, Deise Cardoso de Lima, Antônio Basílio Guerreiro Júnior, Brenda Stefany dos Santos Braga, Antônio Messias Costa, Ana Cássia Sarmento Ferreira, Maria Auxiliadora Ferreira, Verônica Oliveira‐Bahia, Diva Anelie de Araújo Guimarães   +8 more
wiley   +1 more source

Increased Risk of Intrahepatic Cholestasis of Pregnancy in Women With Systemic Lupus Erythematosus Exposed to Azathioprine

Arthritis &Rheumatology, EarlyView.
Objective To evaluate the risk of intrahepatic cholestasis of pregnancy (ICP) in azathioprine (AZA)–exposed versus unexposed systemic lupus erythematosus (SLE) pregnancies within the multicenter prospective Lupus in Pregnancy (LEGACY) cohort. Methods LEGACY is conducted at Systemic Lupus International Collaborating Clinics in Canada, South Korea, Peru,
Reem Farhat, Maria del Carmen Zamora‐Medina, Sang‐Cheol Bae, Megan R. W. Barber, Ann E. Clarke, Paul R. Fortin, Zahi Touma, Carl A. Laskin, Isabelle Malhamé, Giada Sebastiani, Christine Peschken, Manuel F. Ugarte‐Gil, Alexandra Legge, Sasha Bernatsky, Évelyne Vinet   +14 more
wiley   +1 more source

Elevated fetal steroidogenic activity in autism [PDF]

, 2015
Autism affects males more than females, giving rise to the idea that the influence of steroid hormones on early fetal brain development may be one important early biological risk factor.
Cohen, A. S., Melgaard, L, Melgaard, L., M W Abdallah, Abdallah, M. W., D M Hougaard, Hougaard, D M, S Baron-Cohen, Baron-Cohen, S., M V Lombardo, B Auyeung, Auyeung, B., Ruta, L., B Chakrabarti, L Melgaard, Auyeung, B; id_orcid, Chakrabarti, Bhisma, Lombardo, M V, Nørgaard-Pedersen, B., B Nørgaard-Pedersen, A S Cohen, Abdallah, M W, Nørgaard-Pedersen, B, Ruta, L, Lombardo, M. V., Baron-Cohen, S, Chakrabarti, B, L Ruta, Cohen, A S, Hougaard, D. M.   +29 more
core   +1 more source

What Makes an “Ideal” Cell Line for Recombinant Adeno‐Associated Virus Production?

Biotechnology and Bioengineering, EarlyView.
Several host cell types have been used to produce rAAVs to date. Cell line‐specific traits that are beneficial in the context of rAAV manufacturing are reviewed here, with the goal of developing a consensus on the ‘ideal’ characteristics that an rAAV production host should possess (created with Biorender.com).
James Conheady, Nicholas Donohue, Alexandra Bogdanovic, Sharon Davin, Brian Glennon, Niall Barron, C. Mark Smales   +6 more
wiley   +1 more source