Results 161 to 170 of about 2,878,732 (209)

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Clinical Genetics, Volume 110, Issue 4, Page 480-486, October 2026.
Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi, Abdul A. Peer‐Zada, Abeer S. Alaqidi, Corinne Collet, Capucine Coulon, Aziza Mushiba, Florence Petit   +6 more
wiley   +1 more source

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1 ‐Related Noonan Syndrome

Clinical Genetics, Volume 110, Issue 4, Page 502-507, October 2026.
This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska, Barbara Kalina‐Faska, Ewa Błaszczyk, Aneta Gawlik‐Starzyk   +3 more
wiley   +1 more source

Is There a Difference in Occurrence of Complications Between Adults With Hemoglobin SS and Hemoglobin SC Disease: An Extended Systematic Review

European Journal of Haematology, Volume 117, Issue 4, Page 824-837, October 2026.
ABSTRACT Sickle cell disease (SCD) is characterized by both acute and chronic complications. The clinical manifestation of these complications differs between genotypes. Given the large amount of research already published, this systematic review aims to offer a complete overview of types of sickle cell complications between adults in the most common ...
Martijn van der Meer, Kim Velsink, Wing H. Tong, Jan W. Schoones   +3 more
wiley   +1 more source

Incidence and Severity of Carboplatin‐Associated Hearing Loss in Children With Cancer Assessed by the SIOP Boston 2012 Ototoxicity Criteria

Pediatric Blood &Cancer, Volume 73, Issue 9, September 2026.
ABSTRACT Background Platinum‐based chemotherapy is known to cause severe and debilitating hearing loss, but unlike cisplatin, the true incidence of carboplatin‐induced hearing loss remains unclear. We evaluated functional hearing outcomes in children receiving carboplatin to determine the incidence and severity of ototoxicity. Procedure We identified a
Aniket Chawla, Sean Carter, Andrew Wood, Sandra Staffieri, Andrew Dodgshun, David D. Eisenstat, Michael Sullivan   +6 more
wiley   +1 more source

Inositol pyrophosphate kinases in health and disease

FEBS Letters, Volume 600, Issue 17, Page 2379-2396, September 2026.
In mammalian cells, IP6Ks and PPIP5Ks are the key kinases synthesizing the inositol pyrophosphates 5PP‐InsP5 and InsP8. They are essential for early development but also mediate age‐related diseases, including metabolic disorders, cardiovascular diseases, neurodegenerative diseases, and cancers.
Changchang Xing, Chao Wang, Yuanyuan Chen, Weiwei Cheng, Zhaolei Jiang, Alex F. Chen, Chenglai Fu   +6 more
wiley   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1759-1771, September 2026.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Rheumatologic Manifestations of Patients With Type B Insulin Resistance

Arthritis Care &Research, Volume 78, Issue 9, Page 1195-1200, September 2026.
Objective The objectives of this study were to identify laboratory and clinical features associated with type B insulin resistance (TBIR), a rare condition caused by autoantibodies that inhibit the insulin receptor, most frequently occurring in the setting of systemic lupus erythematosus (SLE), and to increase awareness of this rare, life‐threatening ...
S. Amara Ogbonnaya, Sandra G. Williams, Raphael A. Kirou, Marissa Lightbourne, Rebecca J. Brown   +4 more
wiley   +1 more source

Mitochondria‐Targeted Nanotherapies in Aging Neurodegenerative Disorders: Emerging Prospects and Clinical Potential

Advanced Healthcare Materials, Volume 15, Issue 36, 25 September 2026.
Mitochondria‐targeted nanotherapies emerge as a promising strategy for combating aging‐associated neurodegenerative disorders (NDs) by restoring mitochondrial function, reducing oxidative stress, and improving neuronal survival. Recent advances in nanotechnology, therapeutic delivery, and translational research are highlighted, providing insights into ...
Dnyandev G. Gadhave, Ashish B. Jadhav, Nitin B. Waghamode, Shubham Khot, Rajiya Khan, Ravi Hole, Shankar M. Dhobale, Manoj Aswar, Keshav Raj Paudel   +8 more
wiley   +1 more source

An Imaging‐Guided, Patient‐Specific Guiding Aid (RWNGuide) for Safe and Reproducible Inner Ear Drug Delivery

Advanced Materials Technologies, Volume 11, Issue 18, 18 September 2026.
A patient‐specific, imaging‐guided aid enables precise and reproducible drug delivery to the inner ear. By guiding therapeutic agents directly to the round window niche, this approach reduces variability in drug localization, improves delivery safety, and addresses a critical bottleneck in inner ear therapy, offering a scalable strategy for precision ...
Yanjing Luo, Shanshan Jiang, Yimian Luo, Adele Moatti, Farnaz Matin‐Mann   +4 more
wiley   +1 more source

Molecular and Cellular Hallmarks of Age‐Related Vestibular Hair Cell Degeneration

Advanced Science, Volume 13, Issue 53, 24 September 2026.
This study utilizes single‐cell RNA‐seq transcriptomes, advanced imaging, and electrophysiology to examine universal and cell‐type‐specific aging signatures of vestibular hair cells. The study shows that impaired hair bundle function is a key driver of age‐related vestibular dysfunction.
Samadhi Kulasooriya, Huizhan Liu, Sarath Vijayakumar, Celia Bloom, Zhenhang Xu, Shu Tu, Benjamin J. Borgmeier, Mi Zhou, Litao Tao, Bechara Kachar, David Z. He   +10 more
wiley   +1 more source