Results 301 to 310 of about 350,391 (383)

Heterotaxy syndrome, dextrocardia, ureteropelvic obstruction, endometriosis, and pulmonary hypertension in an adult with congenital heart defects: a case report. [PDF]

J Med Case Rep
Al-Bitar A, Zalzaleh MA, Al Helbawi H, Morteza MH.   +3 more
europepmc   +1 more source

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

Clinical Genetics, EarlyView.
This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot, Dima Jouni, Caroline Rooryck, Juliet Taylor, Marine Legendre, Lorelei Charbonnier, Julia Metreau, Emmanuelle Benaloun, Audrey Pinson, Geneviève Quenum, Jérôme Bouligand, Gérard Tachdjian, Philippe Labrune, Lucie Tosca   +13 more
wiley   +1 more source

Genetic impact of copy number variations on congenital heart defects: Current insights and future directions. [PDF]

Glob Med Genet
Krishnamurthy N, Krishna D, Sanjana, Rathinasamy J, Kumar A, Francis AM.   +5 more
europepmc   +1 more source

Organoid Models to Study Human Infectious Diseases

Cell Proliferation, EarlyView.
Our manuscript reviews the role of organoids as models for studying human infectious diseases, highlighting their irreplaceable contributions to drug testing and vaccine development for significant infectious diseases including HIV, ZIKV, SARS‐CoV‐2 and MPXV.
Sijing Zhu, Dan Chen, Xinzhi Yang, Liuliu Yang, Yuling Han   +4 more
wiley   +1 more source

Congenital heart defects and consanguinity: An analysis of the Sidra cardiac registry data in Qatar. [PDF]

Int J Cardiol Congenit Heart Dis
Manyama M, Al Sayegh D, Al-Sulaiti K, Almasri M, Sharma O, El Jerbi A, Al-Riyami Z, Sarada PK, Gupta S, Al-Saloos H, Al-Shafai KN.   +10 more
europepmc   +1 more source

Congenital Heart Defects – A Review

, 2012
openaire   +3 more sources

Role of Histone Deacetylase and Inhibitors in Cardiovascular Diseases

Cell Proliferation, EarlyView.
HDACs play an important role in the occurrence and development of cardiovascular diseases, such as myocardial hypertrophy, hypertension, and atherosclerosis. HDAC inhibitors have broad prospects for the treatment of CVD, and different HDAC subtypes can act through different mechanisms.
Li‐Ying Zhang, Yue‐Yue Wang, Ri Wen, Tie‐Ning Zhang, Ni Yang   +4 more
wiley   +1 more source

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders [PDF]

, 2018
et al.,, Warner, Brad W
core   +1 more source

YKT6 Is Essential for Male Fertility by Promoting Meiosis Progression During Spermatogenesis of Mice

Cell Proliferation, EarlyView.
Specifically ablating Ykt6 in pre‐meiotic germ cells and meiotic spermatocytes leads to complete sterility and meiotic arrest in conditional knockout male mice. YTK6 is required for stabilising intercellular bridges between spermatocytes due to its key role in maintaining protein homeostasis and vesicular transport‐dependent functions in spermatocytes,
Jie Cen, Xiaochen Yu, Ziqi Wang, Wenbo Liu, Jianze Xu, Qian Fang, Fei Gao, Yongzhi Cao, Hongbin Liu   +8 more
wiley   +1 more source

Placental Pathology and Placental Growth Factor (PlGF)/Vascular Endothelial Growth Factor Receptor-1 (VEGFR-1) Pathway Expression Evaluation in Fetal Congenital Heart Defects. [PDF]

Life (Basel)
Bolunduț AC, Mureșan XM, Suflețel RT, Mocan LP, Pîrv S, Șușman S, Mihu CM.   +6 more
europepmc   +1 more source