Results 51 to 60 of about 442,293 (268)

Novel Variants of ANO5 in Two Patients With Limb Girdle Muscular Dystrophy: Case Report

Frontiers in Neurology, 2022
Here we report on two unrelated adult patients presenting with Limb girdle muscular dystrophy who were found to have novel variants in ANO5. Both patients had prominent weakness of their proximal lower limbs with mild weakness of elbow flexion and ...
Matthew Katz, Fleur C. Garton, Mark Davis, Robert D. Henderson, Pamela A. McCombe, Pamela A. McCombe   +5 more
doaj   +1 more source

Sustained Therapeutic Efficacy of Intravenous Plasminogen Concentrate in Pediatric Patients With Type 1 Plasminogen Deficiency: An Analysis of Dosing Parameters and Clinical Outcomes

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Type 1 plasminogen deficiency (PLGD‐1) is an ultra‐rare autosomal recessive disorder caused by variants in the PLG gene and affects approximately 1.6 individuals per million. The condition is characterized by decreased plasminogen levels and impaired function, resulting in fibrin‐rich lesions on mucous membranes throughout the body.
Charles Nakar, Karen Thibaudeau, Mary Mathias, Heather McDaniel, Madlen Reschke, Klaus Tenbrock, Joseph M. Parker, Amy Shapiro   +7 more
wiley   +1 more source

A Novel Heterozygous Intronic FBN1 Variant Contributes to Aberrant RNA Splicing in Marfan Syndrome

Molecular Genetics & Genomic Medicine
Background Marfan syndrome (MFS) is a complex genetic systemic connective tissue disorder. It is well known that genetic factors play a critical role in the progression of MFS, with nearly all cases attributed to variants in the FBN1 gene.
Djouhayna Dougarem, Yi‐Xiao Chen, Yi‐Na Sun, He‐Feng Huang, Qiong Luo   +4 more
doaj   +1 more source

A Novel SACS Variant Identified in a Chinese Patient: Case Report and Review of the Literature

Frontiers in Neurology, 2022
Mutations in the SACS gene have been linked to autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS). It is a clinically and genetically heterogeneous disease characterized by slow progressive ataxia, spasticity, sensorimotor neuropathy, and
Yuchao Chen, Yuchao Chen, Xiaodong Lu, Yi Jin, Dan Li, Dan Li, Xiaojun Ye, Chenjuan Tao, Menglu Zhou, Haibo Jiang, Hao Yu   +10 more
doaj   +1 more source

Guidelines for Pediatric Radiotherapy Simulation: A Report From the Children's Oncology Group Radiation Oncology Discipline

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric radiation therapy presents unique challenges compared to adult treatments, including those of immobilization, potential need for sedation, and the critical importance of accurate, reproducible positioning. Additionally, heightened attention to imaging doses is necessary to minimize long‐term toxicity in survivors.
Parham Alaei, Stephen Mihalcik, Sujith Baliga, Young Kwok, Dana Casey, Eric Ehler, Christiane Burton, John C. Breneman, Daphne A. Haas‐Kogan, Suzanne L. Wolden, Arnold C. Paulino, Nadia N. Laack, Natia Esiashvili, Sarah Milgrom, Christine Hill‐Kayser, Thomas J. Fitzgerald, John A. Kalapurakal, Chia‐Ho Hua   +17 more
wiley   +1 more source

A novel heterozygous frameshift pathogenic variant in GCM2 gene causing isolated hypoparathyroidism: a case report

Frontiers in Endocrinology
Glial cells missing transcription factor 2 (GCM2) is one of the genes responsible for isolated hypoparathyroidism. Most cases of hypoparathyroidism caused by GCM2 pathogenic variants result from homozygous or compound heterozygous loss-of-function ...
Ayano Onishi, Yoshinari Obata, Tomoaki Hayakawa, Makoto Fujiwara, Yasuhisa Ohata, Yuri Tamura, Satoshi Kawata, Kosuke Mukai, Kazuyuki Miyashita, Kenichi Yamamoto, Kenichi Yamamoto, Kenichi Yamamoto, Takuo Kubota, Atsunori Fukuhara, Atsunori Fukuhara, Iichiro Shimomura   +15 more
doaj   +1 more source

Case report: Neonatal autoimmune lymphoproliferative syndrome with a novel pathogenic homozygous FAS variant effectively treated with sirolimus

Frontiers in Pediatrics, 2023
BackgroundAutoimmune lymphoproliferative syndrome (ALPS) is a rare disease characterized by defective FAS signaling, which results in chronic, nonmalignant lymphoproliferation and autoimmunity accompanied by increased numbers of “double-negative” T-cells
Fawzia M. Elgharbawy, Fawzia M. Elgharbawy, Mohammed Yousuf Karim, Mohammed Yousuf Karim, Dina Sameh Soliman, Dina Sameh Soliman, Amel Siddik Hassan, Anoop Sudarsanan, Ashraf Gad, Ashraf Gad   +9 more
doaj   +1 more source

Functional Consequences of a Novel Variant of PCSK1 [PDF]

PLoS ONE, 2013
Common single nucleotide polymorphisms (SNPs) in proprotein convertase subtilisin/kexin type 1 with modest effects on PC1/3 in vitro have been associated with obesity in five genome-wide association studies and with diabetes in one genome-wide association study.
Pickett, Lindsay A, Yourshaw, Michael, Albornoz, Valeria, Chen, Zijun, Solorzano-Vargas, R Sergio, Nelson, Stanley F, Martín, Martín G, Lindberg, Iris   +7 more
openaire   +5 more sources

Personalized Zebrafish Models for Fusion‐Positive Pediatric Sarcomas

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Clinical sequencing efforts have revolutionized our approaches to categorizing pediatric cancers in real time. This has dramatically improved our ability to profile pediatric tumors, identify actionable vulnerabilities, and influence clinical care.
Lisa H. Hall, Emma N. Harrison, Genevieve C. Kendall   +2 more
wiley   +1 more source

Novel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel–Gruber Syndrome 8 in a Non‐Consanguineous Chinese Family

Molecular Genetics & Genomic Medicine
Introduction Meckel‐Gruber syndrome (MKS, OMIM 24,900), also known as Meckel syndrome, is a rare and severe autosomal recessive disorder. The syndrome is typically characterized by a triad of occipital encephalocele, bilateral renal cystic dysplasia, and
Qi Yang, Wei He, Qiang Zhang, Sheng Yi, Xunzhao Zhou, Shujie Zhang, Shang Yi, Qinle Zhang, Jingsi Luo   +8 more
doaj   +1 more source