Results 151 to 160 of about 1,540,335 (330)

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

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 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 Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source

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

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

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

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

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