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TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma
BackgroundAlthough the molecular features of pancreatic ductal adenocarcinoma (PDAC) have been well described, the impact of detailed gene mutation...
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A novel missense mutation in the AIRE gene underlying autoimmune polyglandular syndrome type 1
The immune regulator gene AIRE plays an essential role in the establishment of immune tolerance and the prevention of autoimmunity. This...
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Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia
Mutations in TDP2 , encoding tyrosyl-DNA phosphodiesterase 2, have been associated with a syndromal form of autosomal recessive spinocerebellar...
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An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation
While most missense mutations of the IKBKG gene typically result in Ectodermal Dysplasia with Immunodeficiency, there have been rare reported...
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A novel homozygous missense mutation in the FASTKD2 gene leads to Lennox-Gastaut syndrome
FASTKD2 encodes an RNA-binding protein, which is a key post-transcriptional regulator of mitochondrial gene expression. Mutations in FASTKD2 have...
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Missense mutation of NRAS is associated with malignant progression in neurocutaneous melanosis
Neurocutaneous melanosis (NCM) is a rare congenital neurocutaneous syndrome characterized by congenital melanocytic nevus of skin and abnormal...
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A rare homozygous missense mutation of COL7A1 in a Vietnamese family
We present a homozygous missense mutation in the COL7A1 gene (NM_000094.4: c.6262G>A, p.G2088R) in a case of inversa recessive dystrophic...
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PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner
Accurate discrimination of pathogenic and nonpathogenic variation remains an enormous challenge in clinical genetic testing of inherited retinal...
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In Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene
Paired homologous domain transcription factor 2 (PITX2) is critically involved in ocular and cardiac development. Mutations in PITX2 are consistently...
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Worldwide CDH1 Germline Mutation Frequency
E-cadherin (CDH1 gene) germline mutations are associated with the development of the autosomal cancer syndrome known as hereditary diffuse gastric...
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A de novo missense mutation in MPP2 confers an increased risk of Vogt–Koyanagi–Harada disease as shown by trio-based whole-exome sequencing
Vogt–Koyanagi–Harada (VKH) disease is a leading cause of blindness in young and middle-aged people. However, the etiology of VKH disease remains...
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Revisiting the Biological and Clinical Impact of CDH1 Missense Variants
E-cadherin, encoded by CDH1, plays an undisputable role in mechanical and biochemical signals that are crucial for cell integrity and tissue...
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Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans
AbstractNon-obstructive azoospermia (NOA) and premature ovarian insufficiency (POI) represent the most serious forms of human infertility caused by...
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Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation
BackgroundSpinal muscular atrophy, lower extremity predominant (SMALED) is a type of non-5q spinal muscular atrophy characterised by weakness and...
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Multidimensional quantitative phenotypic and molecular analysis reveals neomorphic behaviors of p53 missense mutants
Mutations in the TP53 tumor suppressor gene occur in >80% of the triple-negative or basal-like breast cancer. To test whether neomorphic functions of...
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Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease
Leukodystrophies are a heterogenous group of genetic disorders, characterised by abnormal development of cerebral white matter. Pelizaeus-Merzbacher...
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Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene
The PAX6 gene encodes a highly-conserved transcription factor involved in eye development. Heterozygous loss-of-function variants in PAX6 can cause a...
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Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria
BackgroundDyschromatosis universalis hereditaria (DUH) is a pigmentary dermatosis characterized by generalized mottled macules with hypopigmention...
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Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects
Neural tube defects (NTDs) are severe malformations of the central nervous system that arise from failure of neural tube closure. HECTD1 is an E3...
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USH2A mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer
This study aimed to identify subtypes of genomic variants associated with the efficacy of immune checkpoint inhibitors (ICIs) by conducting...
