Results 121 to 130 of about 28,233 (215)

Clinical and Molecular Features of BAP1‐Mutated Meningiomas: Case Series

Molecular Carcinogenesis, EarlyView.
ABSTRACT BRCA1‐associated protein 1 (BAP1)‐deficient meningiomas represent a clinically and molecularly distinct subgroup with variable histology and aggressive behavior that may not be fully captured by current grading criteria. The clinical spectrum of BAP1 alterations in meningiomas, including both somatic and germline contexts, remains incompletely
Ivan Pradilla, Rasha Alfattal, Susan L. McGovern, Shaan M. Raza, Franco DeMonte, Leomar Y. Ballester, Chirag B. Patel, Carlos Kamiya‐Matsuoka   +7 more
wiley   +1 more source

Pancreatic Adenocarcinoma Associated With a Germline RAD51C Mutation. [PDF]

ACG Case Rep J
Lawrence A, Villanueva I, Parikh J, Mandalia A.   +3 more
europepmc   +1 more source

Multiomics Insights Into AL Amyloidosis

Medicine Bulletin, EarlyView.
ABSTRACT Light chain amyloidosis is a systemic or localized protein conformational disorder triggered by misfolded immunoglobulin light chains, leading to amyloid fibril deposition. The disease is characterized by multiorgan involvement and delayed diagnosis, contributing to poor prognosis and high mortality rates.
Zixuan Zhang, Ziru Huang, Haoxiang Tang, Xianrun Pan, Rong Wang, Dingding Zhang, Jian Huang   +6 more
wiley   +1 more source

When Covering and Discovering Are at Odds: How the Logic of US Health Insurance Undercuts the Promise and Equity of Precision Medicine for People with Hereditary Cancer Risks. [PDF]

J Health Polit Policy Law
Mrig EH, Schlesinger M, Weiss JM, Pandhi N, Smith KC, Jacobson N, Grob R.   +6 more
europepmc   +1 more source

Central Nervous System Tumors in Xeroderma Pigmentosum: Five Cases and Review of the Literature

Movement Disorders, EarlyView.
Abstract Background Xeroderma pigmentosum (XP) is a rare autosomal recessive DNA‐repair disorder characterized by extreme ultraviolet radiation (UVR) sensitivity, markedly increased cutaneous malignancy risk, and progressive neurological disease in approximately one‐third of patients.
Farrah S. Bakr, Huseyin Arisoy, Alan R. Lehmann, Paola Giunti, Hiva Fassihi   +4 more
wiley   +1 more source

Genetic Predisposition to Pancreatic Cancer: A Systematic Review of Hereditary Syndromes and Familial Aggregation. [PDF]

Cancers (Basel)
Baraian CS, Turculet CS, Negoi I.
europepmc   +1 more source

Redefining CHI3L1: Therapeutic Opportunities at the Crossroads of Immune Suppression and Disease Progression

Medicinal Research Reviews, EarlyView.
ABSTRACT Chitinase‐3‐like‐1 (CHI3L1, also known as YKL‐40) has been recognized as a biomarker of inflammation and tissue remodeling and has now emerged as a pseudoenzymatic immune checkpoint. Recent structural, immunological, and translational studies redefine it as an active regulator of immune suppression rather than a passive disease marker. Despite
Kirti Upmanyu, Saurabh Upadhyay, Moustafa T. Gabr   +2 more
wiley   +1 more source

Impact of revised severity criteria on the acceptability of PGT-M for childhood-onset cancer predisposition syndromes: a survey of genetic professionals in Japan. [PDF]

J Community Genet
Terui-Kohbata H, Murai Y, Ebana Y, Yoshida M.   +3 more
europepmc   +1 more source

Multifaceted burden of short bowel syndrome for patients and caregivers: The landmark survey

Nutrition in Clinical Practice, EarlyView.
Abstract Background Short bowel syndrome is a debilitating condition often requiring long‐term parenteral support to maintain hydration, nutrition, and survival. Methods As part of the noninterventional, cross‐sectional Landmark Survey study, we evaluated burdens associated with short bowel syndrome and parenteral support dependency from patient and ...
Jenny E. Harrison, Syed‐Mohammed Jafri, Roopa Vemulapalli, Vanessa Kumpf, Gail Mitchell, Mena Boules, Mindy M. Yang, Laurin Jackson, Jinyi Wang, Laurie Zografos, Daniel Wolin, Marion F. Winkler   +11 more
wiley   +1 more source

A Gut Feeling: Metastatic Colorectal Adenocarcinoma With Dirty Necrosis in a Young Adult Without Risk Factors. [PDF]

Cureus
Memari K, Reinoso E, Sizova A, Lazo LP, Williams S, Cohen P.   +5 more
europepmc   +1 more source