Results 111 to 120 of about 70,366 (259)

Highly Sensitive Spatial Host‐Microbiome Transcriptomics in FFPE Tissues via Iterative Hydrogel Expansion

Advanced Science, EarlyView.
Ex‐spRandom is a spatial transcriptomics platform that synergizes random‐primed chemistry with iterative hydrogel expansion. By physically decrowding the dense FFPE matrix, this scalable technology shatters the traditional resolution‐sensitivity barrier.
Shunji Zhang, Mengyuan Wang, Jiaye Chen, Yuyi Zhu, Bin Zhu, Ziye Xu, Yuan Liao, Yongcheng Wang   +7 more
wiley   +1 more source

The Risk of Cardiovascular Diseases for Shift Workers in the Prospective Heinz Nixdorf Recall Study

American Journal of Industrial Medicine, EarlyView.
ABSTRACT Background Shift work can disrupt circadian rhythms and is postulated to play a role in cardiovascular diseases (CVD). In the German prospective population‐based Heinz Nixdorf Recall Study, we analyzed longitudinal associations between shift work and night‐shift work with CVD.
Katharina Wichert, Sylvia Rabstein, Raimund Erbel, Lewin Eisele, Marina Arendt, Nico Dragano, Karl‐Heinz Jöckel, Thomas Behrens   +7 more
wiley   +1 more source

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

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

Editorial: Updates and discussions about basal ganglia and their circuits. [PDF]

Front Neuroanat
Cavalcanti JRLP, do Nascimento-Júnior ES, Huang ZL, Bhagwandin A.   +3 more
europepmc   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

A case of metformin-associated encephalopathy in a patient undergoing maintenance hemodialysis. [PDF]

CEN Case Rep
Fukata F, Iwami S, Yasuda K, Masunaga M, Yasukawa M.   +4 more
europepmc   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Retrospective clinical study of endoscopic transfrontal approach vs. transSylvian-transinsular craniotomy for hypertensive intracerebral hemorrhage in basal ganglia: efficacy comparison and value of anatomical cognition of Sylvian fissure. [PDF]

Front Surg
Su WS, Su XQ, Yu XX, Zhang FL, Tian XH, Liu Z.   +5 more
europepmc   +1 more source