Results 191 to 200 of about 3,327,559 (283)

RLIM‐associated neurodevelopmental disorders: From clinical spectrum to molecular mechanisms

The FEBS Journal, EarlyView.
RLIM (RNF12) is an E3 ubiquitin ligase essential for mammalian development. Loss‐of‐function variants cause Tønne–Kalscheuer syndrome, while duplications cause Xq13 duplication syndrome, highlighting RLIM dosage sensitivity. This review summarizes the genetics, clinical features, and molecular mechanisms of RLIM‐associated disorders, integrating ...
Madison Landon, Kyra Swildens, Vera M. Kalscheuer, Cristina Gontan, Francisco Bustos   +4 more
wiley   +1 more source

Case Report: Life-saving emergency chemotherapy in a critically ill patient with suspected metastatic testicular cancer prior to histological confirmation. [PDF]

Front Oncol
John von Freyend V, Kleemiss M, Cox A, Schwab K, Brossart P, Serries M.   +5 more
europepmc   +1 more source

Biochemical profiling and symptomatology of androgen deficiency in males with cluster headache: A prospective case–control study

Headache: The Journal of Head and Face Pain, EarlyView.
Abstract Objectives/Background Cluster headache (CH) has historically been considered a male‐dominated disorder, suggesting a role for androgens in its pathophysiology. We aimed to evaluate hormone profiles and symptoms of androgen deficiency in CH.
Willemijn C. Naber, Roemer B. Brandt, Mariël Leon Morales‐Grooters, Ronald van der Wal, Sjoerd A. A. van den Berg, Jelle J. Goeman, Antoinette Maassen van den Brink, Rolf Fronczek   +7 more
wiley   +1 more source

A rare Zinner syndrome combined with testicular cancer: a case report. [PDF]

Front Oncol
Meng L, Shao Y, Jia Y, Deng X, Tang Y, Hu X, Wu K, Li X.   +7 more
europepmc   +1 more source

Pattern‐based interpretation of SOX2 expression in ovarian teratomas: avoiding diagnostic pitfalls in the distinction between immature and mature neuroectodermal elements

Histopathology, EarlyView.
Ovarian immature teratoma grading may be confounded by mature neuroectodermal mimics. SOX2 labelled immature neuroepithelium but also mature ependymal and glial tissue, while SALL4 was negative in mature mimics and variably expressed in immature neuroepithelium.
Agnese Orsatti, Caterina Ravaioli, Marco Grillini, Eugenia Franchini, João Lobo, Andres M. Acosta, Veronica Mollica, Claudio Zamagni, Pierandrea De Iaco, Anna Myriam Perrone, Michelangelo Fiorentino, Giovanni Tallini, W. Glenn McCluggage, Costantino Ricci, Antonio De Leo   +14 more
wiley   +1 more source

CHD1L promotes testicular cancer progression through epigenetic activation of the CXCR6/PI3K/AKT pathway. [PDF]

Sci Rep
Zhao Y, Yan H, Chen X, Zhang X, Lu M, Zhang M.   +5 more
europepmc   +1 more source

Understanding extracellular vesicles in antiaging

Periodontology 2000, EarlyView.
Abstract Background Aging is a multifactorial process marked by gradual cellular dysregulation, regulated by hallmarks, including genomic instability, mitochondrial dysregulation, and chronic inflammation. Extracellular vesicles (EVs), especially exosomes, have emerged as pivotal mediators of cell‐to‐cell communication with potential roles in both ...
Paras Ahmad, Nathan E. Estrin, Anton Sculean, Richard J. Miron   +3 more
wiley   +1 more source

Pulmonary Fibrosis and Pulmonary Function in Patients with Metastatic Testicular Cancer During and after Combination Chemotherapy: The BLEOTOX Study. [PDF]

Eur Urol Open Sci
Frey L, Grunwald S, Ruckes C, Duwe G, Wohlleber K, Frey LJ, Haack M, Rölz N, Dotzauer R, Korczynski D, Axel Haferkamp A, Brandt MP.   +11 more
europepmc   +1 more source

Intramuscular pathways of maladaptation in overtraining syndrome

The Journal of Physiology, EarlyView.
Abstract figure legend The transition from adaptive overreaching to maladaptive overtraining and mechanisms through which excessive training load can lead to performance decline. Four interconnected pathophysiological domains are highlighted: neural fatigue, involving both central and peripheral components such as altered sensory feedback and reflex ...
Emily Shorter, Oscar Horwath, Sabrina Tzivia Barsky, Ferdinand von Walden, Johanna T. Lanner   +4 more
wiley   +1 more source

Semen Analysis in Men with Testicular Cancer: Insights from a Large Fertility Preservation Cohort Toward Personalized Fertility Assessment. [PDF]

J Pers Med
Cariati F, Orsi MG, Maione A, Bagnulo F, Di Girolamo R, Carbone L, Servetto A, Farina F, Bianco R, Esteves SC, Alviggi C, Conforti A.   +11 more
europepmc   +1 more source