Results 181 to 190 of about 68,079 (217)

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, Volume 110, Issue 1, Page 64-72, July 2026.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Prediction of acute kidney injury after total aortic arch replacement with postoperative serum lactate: a retrospective cohort study. [PDF]

Ren Fail
Tang X, Li C, Ren J, Lin C, Chen Z, Zhu J, Deng Y, Chen C.   +7 more
europepmc   +1 more source

Pubertal development and hypothalamic–pituitary–gonadal axis are altered in male mice lacking Mecp2

Journal of Neuroendocrinology, Volume 38, Issue 7, July 2026.
Abstract Mutations in the MECP2 gene, encoding the epigenetic reader Methyl‐CpG binding protein 2, are the main cause of Rett syndrome, a rare neurodevelopmental disorder. Besides severe symptoms such as profound intellectual disability, loss of speech and motor skills, and epilepsy, loss of function of MECP2 has been associated with pubertal ...
Ana Martín‐Sánchez, Daniela Jiménez‐Díaz, Rafael Esteve‐Pérez, Alexandru Vasile‐Tudorache, Jordan E. Read, Sasha R. Howard, Carmen Agustín‐Pavón   +6 more
wiley   +1 more source

Case report: Diagnosis of a double aortic arch in the primary care setting. [PDF]

J Family Med Prim Care
Chick M.
europepmc   +1 more source

The junction between the midgut and hindgut co‐localizes with the rectosigmoid junction

Journal of Anatomy, Volume 249, Issue 1, Page 33-53, July 2026.
At 5 weeks of development, the midgut has formed its primary loop (left). It is well established that the midgut is bounded cranially by the caudal end of the ventral mesentery and the presence of the common bile duct, but its caudal boundary remains to be established.
Hui Gao, Nutmethee Kruepunga, Greet Mommen, Susanne E. Köhler, Jill P. J. M. Hikspoors, Wouter H. Lamers   +5 more
wiley   +1 more source

Odyssey from the street: a successful aortic arch replacement after firearm injury. [PDF]

J Cardiothorac Surg
D'Alonzo M, Grande AM, Fiore A.
europepmc   +1 more source

Interrelations of aortic spring function, cardiovascular disease risk factors, and left ventricular diastolic function: The Framingham Heart Study

Physiological Reports, Volume 14, Issue 13, July 2026.
Abstract Mechanical twisting and untwisting of the left ventricle as well as abnormal hemodynamic aortic‐ventricular coupling are recognized as contributors to left ventricular diastolic function. However, energy associated with proximal aortic stretch during systole can be recovered as diastolic elastic recoil that may facilitate diastolic left ...
Leroy L. Cooper, Brenton R. Prescott, Vanessa Xanthakis, Jian Rong, Martin G. Larson, Emelia J. Benjamin, Naomi M. Hamburg, Ramachandran S. Vasan, Gary F. Mitchell   +8 more
wiley   +1 more source

Midterm results of aortic arch replacement with frozen elephant trunk for chronic dissecting aortic aneurysm involving the aortic arch. [PDF]

Nagoya J Med Sci
Nakata S, Mutsuga M, Narita Y, Tokuda Y, Terazawa S, Yoshizumi T, Ito H, Emoto R, Matsui S, Usui A.   +9 more
europepmc   +1 more source

Kommerell's Diverticulum Masquerading in a Right Aortic Arch: A Vascular Surprise. [PDF]

Methodist Debakey Cardiovasc J
Irshad S, Adrejiya P, Abubaker M, Whitaker J.   +3 more
europepmc   +1 more source