Results 181 to 190 of about 238,953 (314)

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Vagal sensory neurons profusely innervate the mouse gall bladder. [PDF]

Auton Neurosci
Neuhuber WL, Yu S, Williams J, Burk DH, Morrison CD, Münzberg H, Berthoud HR.   +6 more
europepmc   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Association of MRI-Visible Perivascular Spaces With Longitudinal Cognitive Decline Over a Decade. [PDF]

Neurology
Kohno K, Sun Y, LeFevre JD, Robb WH, Jackson TB, Liu D, Vyas Y, Sweely B, Pechman KR, Shashikumar N, Peterson A, Landman B, Davis LT, Hohman TJ, Jefferson AL.   +14 more
europepmc   +1 more source

Effect of Laser Posterior Nasal Neurolysis for the Treatment of Chronic Rhinitis: A Randomized Controlled Trial

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background To determine the safety and efficacy of laser ablation of the posterior nasal nerve (PNN) for the treatment of chronic rhinitis. Methods This study was a single‐center, prospective, single‐blinded, randomized sham‐controlled trial. Patients with a 24‐h reflective Total Nasal Symptom Score (rTNSS) ≧ 5, rhinorrhea ≧ 2, and congestion ≧
Jyun‐Yi Liao, En‐Ying Wang, Ying‐Shuo Hsu, Ming‐Shao Tsai, Cheng‐Jung Wu, Chia‐Hao Chang, Yi‐Li Hwang, Han‐Lo Teng, Jun‐Wei Hsieh, Chien‐Yu Huang   +9 more
wiley   +1 more source

Herpes Simplex Virus 1 in Trigeminal Ganglia of Trafficked Neotropical Primates, Peru, 2024. [PDF]

Emerg Infect Dis
Vilchez-Delgado F, Zhou L, O'Connor S, Colan R, Escobar-Mendoza L, Mendoza AP, Ghersi BM, Andrade R, Talledo-Albújar M, Rosenbaum MH.   +9 more
europepmc   +1 more source

Scalp electroacupuncture targeting trigeminal nerve activation alleviates post‐traumatic stress disorder–induced depression and neuroinflammation in mice

Animal Models and Experimental Medicine, EarlyView.
Scalp electroacupuncture (SA) through activation of the trigeminal pathway exerts anti‐inflammatory, antidepressant, and anxiolytic effects in an animal model of post‐traumatic stress disorder induced by single prolonged stress. This suggests that SA is involved in neuroinflammation and changes in brain‐derived neurotrophic factor protein through the ...
Bombi Lee, Yoongeun Kim, Hyungjun Kim, Dae‐Hyun Hahm   +3 more
wiley   +1 more source

Developmental variation in basal ganglia tissue iron, neurocognitive functioning, and impulsivity is associated with substance use trajectories in youth. [PDF]

Nat Commun
Parr AC, Ojha A, Petrie DJ, Calabro FJ, Tervo-Clemmens B, Foran W, Fitzgerald D, Tapert SF, Nooner K, Thompson W, Goldston DB, Clark D, Luna B.   +12 more
europepmc   +1 more source

Partial hearing recovery after cochlear nerve surface transplantation of hair follicle‐derived neural crest stem cells in neural hearing loss rat

Animal Models and Experimental Medicine, EarlyView.
This study comprises three experimental parts. Part 1. Time‐course of ouabain‐induced hearing loss. Rats received ouabain (10 mM) via round window application. ABR/DPOAE tests and histological analyses were performed at 2, 7, and 30 days post‐treatment to characterize SGN and glial cell degeneration. Part 2.
Huidong Chen, Yunlong Zhang, Huanzhi Wan, Bingqian Yang, Tianyi Liu, Jie Wang, Hua Liao, Yuanyuan Zhang, Zhijian Zhang, Qingquan Hua   +9 more
wiley   +1 more source