Results 161 to 170 of about 117,087 (348)

Artificial Intelligence for Bone: Theory, Methods, and Applications

Advanced Intelligent Discovery, EarlyView.
Advances in artificial intelligence (AI) offer the potential to improve bone research. The current review explores the contributions of AI to pathological study, biomarker discovery, drug design, and clinical diagnosis and prognosis of bone diseases. We envision that AI‐driven methodologies will enable identifying novel targets for drugs discovery. The
Dongfeng Yuan, Haicang Zhang, Liping Tong, Di Chen   +3 more
wiley   +1 more source

Free water as a potential mediator linking basal ganglia peri-vascular spaces to white matter hyperintensities in cerebral small vessel disease [PDF]

Weixing Feng, Xinjun Lei, Xinbin Wang, Shangcheng Xu, Zhihua Xu   +4 more
openalex   +1 more source

Mutations at the SLC20A2 gene and brain resilience in families with idiopathic basal ganglia calcification (“Fahr's disease”) [PDF]

, 2013
Danyllo Oliveira, Roberta R. Lemos, João Ricardo Mendes de Oliveira   +2 more
openalex   +1 more source

Neuropathology of the Basal Ganglia in SNCA Transgenic Rat Model of Parkinson’s Disease: Involvement of Parvalbuminergic Interneurons and Glial-Derived Neurotropic Factor [PDF]

, 2022
Emanuela Paldino, Vincenza D’Angelo, Mariangela Massaro Cenere, Ezia Guatteo, Simone Barattucci, Giorgia Migliorato, Nicola Berretta, Olaf Rieß, Giuseppe Sancesario, Nicola Biagio Mercuri, Francesca R. Fusco   +10 more
openalex   +1 more source

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Long‐term prognosis is associated with residual disease after neoadjuvant systemic therapy but not with initial nodal status

BJS (British Journal of Surgery), EarlyView., 2020
This long‐term follow‐up study determined survival rates in a Swedish national cohort of 417 patients with breast cancer who all had neoadjuvant systemic therapy (NAST). Sentinel lymph node biopsy (SLNB) was performed before NAST in clinically node‐negative and after NAST in clinically node‐positive patients.
L. Zetterlund, F. Celebioglu, T. Hatschek, J. Frisell, J. de Boniface   +4 more
wiley   +1 more source

Interrogating basal ganglia circuit function in Parkinson’s disease and dystonia [PDF]

, 2023
Srdjan Sumarac, Karen A. Spencer, L. Steiner, Conor Fearon, Emily Haniff, AA Kühn, Mojgan Hodaie, Suneil K. Kalia, Andrés M. Lozano, Alfonso Fasano, WD Hutchison, Luka Milosevic   +11 more
openalex   +1 more source

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro, Caterina Zuccoli, Roberto Marozzi, Antonino Barletta, Lisa Licini, Paola Tebaldi, Valeria Casotti, Mariangela Stinco, Lidia Pezzani, Maria Iascone, Lorenzo D'Antiga   +10 more
wiley   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source