Results 231 to 240 of about 39,998 (271)

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

Defects in Innate and Intrinsic Immunity in Morocco: A Retrospective Analysis of the Genetic Landscape and Clinical Correlations. [PDF]

Pathog Immun
Refaat M, Oujane C, Errami A, Aadam Z, Moundir A, Baghad B, Zaidi S, Kholaiq H, El Kettani A, Benhsaien I, Ailal F, Bourhanbour AD, El Bakkouri J, Bousfiha AA.   +13 more
europepmc   +1 more source

Expression of mutant TIE2 p.L914F during mouse development causes embryonic lethality and defects in vascular remodeling

Developmental Dynamics, EarlyView.
Abstract Background Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development.
Lindsay J. Bischoff, Sandra Schrenk, Kara Soroko, Chhiring Sherpa, Ashok Arasu, Damien Reynaud, Elisa Boscolo   +6 more
wiley   +1 more source

A rare case report of activated PI3K delta syndrome (APDS): diagnostic pitfalls. [PDF]

BMC Pediatr
Ahmad Shawaludin MQ, Zainudeen ZT, Taib F, Husin A, Ali A, Abd Hamid IJ.   +5 more
europepmc   +1 more source

Loss of Twist1 leads to disruption of ciliary length, endocytic vesicle dynamics, and cell–cell junctions during neural tube formation

Developmental Dynamics, EarlyView.
Abstract Background Endocytosis constitutes a fundamental cellular process governing development through coordinated regulation of plasma membrane remodeling and ciliogenesis, processes essential for cell shape changes and tissue development. Although Twist1 null embryos display complete cranial neural tube (NT) closure defects and conditional knockout
Derrick Thomas, Brittany M. Hufft‐Martinez, Zarna Lalwani, Vi Pham, Mary Elmeniawi, An J. Tran, Jianming Xu, Irfan Saadi, Walid D. Fakhouri   +8 more
wiley   +1 more source

Autoimmune thyroid disease in inborn errors of immunity: a retrospective perspective. [PDF]

Orphanet J Rare Dis
Bayrak Durmaz MS, Ozdel Ozturk B, Gorgulu Akin B, Kalkan F, Soyyiğit S.   +4 more
europepmc   +1 more source

Next-Generation Sequencing in the Diagnostic Workup of Neonatal Dried Blood Spot Screening in Sweden 2015-2023. [PDF]

Int J Neonatal Screen
Sörensen L, Asin-Cayuela J, Barbaro M, Bruhn H, Engvall M, Lesko N, Naess K, Oscarson M, Shen Y, Ueberschär M, Wredenberg A, Sterky FH, Wedell A, Zetterström RH.   +13 more
europepmc   +1 more source

The effects of sodium–glucose cotransporter 2 inhibitors on the ‘forgotten’ right ventricle

ESC Heart Failure, Volume 12, Issue 2, Page 1045-1058, April 2025.
Abstract With the progress in diagnosis, treatment and imaging techniques, there is a growing recognition that impaired right ventricular (RV) function profoundly affects the prognosis of patients with heart failure (HF), irrespective of their left ventricular ejection fraction (LVEF).
Liangzhen Qu, Xueting Duan, Han Chen
wiley   +1 more source

The Spectrum of Bacterial Infection in a Large Cohort of Chinese Pediatric Patients with Inborn Errors of Immunity: A Nine-year, Retrospective, Single-center Study. [PDF]

J Clin Immunol
Zhu X, Fu P, Wang W, Ying W, Sun B, Hou J, Hui X, Sun J, Wang C, Zhou Q, Wang X.   +10 more
europepmc   +1 more source

Lean ZSF1 rats in basic research on heart failure with preserved ejection fraction

ESC Heart Failure, Volume 12, Issue 2, Page 1474-1478, April 2025.
Abstract Aims ZSF1 obese rats harbouring two mutant leptin receptor alleles (Leprcp and Leprfa) develop metabolic syndrome and heart failure with preserved ejection fraction (HFpEF), making them a widely used animal model in cardiometabolic research.
Petra Büttner, Antje Augstein, Mahmoud Abdellatif, André Lourenço, Adelino Leite‐Moreira, Inês Falcão‐Pires, Sarah Werner, Holger Thiele, Simon Sedej, Antje Schauer, Volker Adams   +10 more
wiley   +1 more source