Results 131 to 140 of about 247,558 (284)

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Discovery of a First‐in‐Class Covalent Allosteric SHP1 Inhibitor with Immunotherapeutic Activity

Angewandte Chemie, EarlyView.
A covalent allosteric inhibitor M029 was discovered for SHP1, a novel target for immunotherapy. M029 binds to a cryptic Cys remote from the active site, exhibits robust target engagement, and blocks tumor progression by stimulating antitumor immune response.
Zihan Qu, Frederick Nguele Meke, Zheng Zhang, Aaron D. Krabill, Christine S. Muli, Brenson A. Jassim, Jiajun Dong, Quyen D. Nguyen, Yunpeng Bai, Jinyue Li, Yiming Miao, Bardia Asadi, Levi M. Johnson, Jinmin Miao, Darci J. Trader, W. Andy Tao, Zhong‐Yin Zhang   +16 more
wiley   +2 more sources

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)

International Journal of Endocrinology, 2018
Objective. Spondyloepiphyseal dysplasia tarda (SEDT) is a rare hereditary bone disease characterized by spinal and epiphyseal anomalies. We identified the disease by gene sequencing in a Chinese pedigree with SEDT. Methods.
Lei Kong, Dongxu Wang, Shanshan Li, Chengsheng Zhang, Xiuyun Jiang, Qingbo Guan, Zhenlin Zhang, Fei Jing, Jin Xu   +8 more
doaj   +1 more source

LIS1 Missense Mutations [PDF]

Journal of Biological Chemistry, 2003
Michal Caspi, Frédéric M. Coquelle, Cynthia Koifman, Talia Levy, Hiroyuki Arai, Junken Aoki, Jan R. De Mey, Orly Reiner   +7 more
openaire   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

A Novel Subtype of Spondylocostal Dysplasia Associated With a Heterozygous Missense FLNA Variant

Orthopaedic Surgery
Background Spondylocostal dysplasia (SCD) is characterized by vertebral defects and rib abnormalities. Following radiological diagnosis, further genetic testing is conducted to confirm the mutant loci and identify the subtype of SCD.
Haoyu Cai, Xu'an Huang, Haojie Chen, Junduo Zhao, Heng Sun, Yizhen Huang, Jiayue Guo, Jianxiong Shen   +7 more
doaj   +1 more source

Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy. [PDF]

, 2015
PurposeTo report potentially pathogenic mutations in the keratin 3 (KRT3) and keratin 12 (KRT12) genes in two individuals with clinically diagnosed Meesmann corneal dystrophy (MECD).MethodsSlit-lamp examination was performed on the probands and available
Aldave, Anthony J, Chen, Judy L, Chung, Duk-Won D, Deng, Sophie X, Frausto, Ricardo F, Gee, Jessica A, Gee, Katherine M, Lin, Benjamin R   +7 more
core   +1 more source