Korro Bio, Inc.: KRRO-110 Receives Orphan Drug Designation from U.S. FDA for Alpha-1 Antitrypsin Deficiency
Korro Bio, Inc. (Korro) (Nasdaq: KRRO), a clinical-stage biopharmaceutical company focused on developing a new class of genetic medicines based on ...
KRRO-110 Receives Orphan Drug Designation from U.S. FDA for Alpha-1 Antitrypsin Deficiency
Korro Bio, Inc. (Korro) (Nasdaq: KRRO), a clinical-stage biopharmaceutical company focused on developing a new class of genetic medicines based on editing RNA for both rare and highly prevalent ...
Nature4d
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
We studied five patients from two families from the United States of America. In family CSM1, two out of three siblings developed proximal muscle weakness and wasting while in their twenties or ...
Nature14d
A method and server for predicting damaging missense mutations
The second pair, HumVar 3, consists of all the 13,032 human disease-causing mutations from UniProt and 8,946 human nonsynonymous single-nucleotide polymorphisms (nsSNPs) without annotated ...
Science Media Centre10d
expert reaction to unpublished preprint on inducing loss of function of genes in mice to produce woolly mammoth- like hair phenotypes
“Colossal’s team made a number of genetic changes known as “knock outs” in lab mice that are already known to produce longer, thicker, wavier — or woollier — coats in mice. They also made a change ...
C&EN23d
XGBMUT: Predicting the Functional Impact of Missense Mutations Using an Extreme Gradient Boost Classifier
Laboratory of Molecular Modeling and QSAR, Faculty of Pharmacy, Federal University of Rio de Janeiro, 373 Carlos Chagas Filho Avenue, Rio de Janeiro, Rio de Janeiro 21941-170, Brazil Laboratory of ...
The Manila Times11d
ArriVent BioPharma Reports Full Year 2024 Financial Results
First clinical data demonstrating robust confirmed responses and CNS anti-tumor activity for firmonertinib in first-line NSCLC EGFR PACC mutations Global pivotal Phase 3 monotherapy study for ...
BMJ5d
Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C
Background: m.14487T>C, a missense mutation (p.M63V) affecting the ND6 subunit of complex I of the mitochondrial respiratory chain, has been reported in isolated childhood cases with Leigh syndrome ...
The Economist20d
Gene editing is already revolutionising research in the laboratory
When the monkeys were single-celled embryos, scientists had used CRISPR editing tools to silence, or “knock out”, a gene that ...
BMJ29d
CADASIL with cord involvement associated with a novel and atypical NOTCH3 mutation
Results Three members of a family presented with CADASIL caused by a novel NOTCH3 missense mutation, C212Y. Two daughters of the proband also manifested a distinctive pattern of cord lesions confined ...
verywellhealth15d
Causes and Risk Factors for Thrombocytopenia
Thrombocytopenia, which is a low platelet count, can be caused by problems in the bone marrow or the immune system. The bone marrow may not make enough platelets, or the immune system may destroy ...
Frontiers10d
Molecular Diagnosis and Prenatal Phenotype Analysis of Eight Fetuses With Ciliopathies
The pathogenic potential of missense variants was predicted by PolyPhen2, SIFT, PROVEAN, and Mutation Taster. The frequency of putative variants was obtained from the Human Gene Mutation Database ...