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Results 1 - 10
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365
CloneIt : finding cloning strategies, in-frame deletions and frameshifts
"... Motivation: The CloneIt program searches for sub-cloning strategies, in-frame deletions and frameshifts within a plasmid sequence. ..."
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Motivation: The CloneIt program searches for sub-cloning strategies, in-frame deletions and frameshifts within a plasmid sequence.
Severe Osteogenesis Imperfecta Caused by a Small In-Frame Deletion in CRTAP
"... Mutations of proteins involved in posttranslational modification of collagen type I can cause osteogenesis imperfecta (OI) inherited in a recessive pattern. The cartilage-associated protein (CRTAP) is part of a heterotrimeric complex (together with prolyl-3-hydroxylase-1 [P3H1] and cyclophilin B) t ..."
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) that 3-hydroxylates the alpha 1 chain of collagen type I at proline residue 986 and plays a collagen chaperon role. CRTAP mutations usually cause severe OI. We report on a patient with OI and a homozygous in-frame deletion in CRTAP and a severe form of OI. The girl was born with markedly deformed long
MUTATION IN BRIEF Congenital Insensitivity to Pain: Novel SCN9A Missense and In-frame Deletion Mutations HUMAN MUTATION OFFICIAL JOURNAL
"... www.hgvs.org ABSTRACT: SCN9A encodes the voltage-gated sodium channel Nav1.7, a protein highly expressed in pain-sensing neurons. Mutations in SCN9A cause three human pain disorders: bi-allelic loss of function mutations result in Channelopathy-associated Insensitivity to Pain (CIP), whereas activat ..."
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the identification and functional characterization of two novel non-truncating mutations in families with CIP: a homozygously-inherited missense mutation found in a consanguineous Israeli Bedouin family (Nav1.7-R896Q) and a five amino acid in-frame deletion found in a sporadic compound heterozygote (Nav1.7-ΔR1370-L
A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like
, 2013
"... Cone-rod dystrophies (CORDs) represent a heterogeneous group of monogenic diseases leading to early impairment of vision. The majority of CORD entities show autosomal modes of inheritance and X-linked traits are comparably rare. So far, three X-chromosomal entities were reported (CORDX1,-X2 and-X3). ..."
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). In this study, we analysed a large family of German origin with solely affected males over three generations showing a CORDX-like phenotype. Due to the heterogeneity of cone-rod dystrophies, we performed a combined linkage and X-exome sequencing approach and identified a novel large intragenic in-frame deletion
Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydrogenase in-frame deletion in an older woman
"... Glucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-linked disorder, is usually observed in hemizygote males and very rarely in females. The G6PD class 1 variants, very uncommon, are associated with chronic hemolytic anemia. Here we report a Portuguese woman who suffered in her sixties from a ..."
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a chronic hemolytic anemia due to G6PD deficiency. Molecular studies revealed heterozygosity for an in-frame 18-bp deletion, mapping to exon 10 leading to a deletion of 6 residues, 362-367 (LNERKA), which is a novel G6PD class 1 variant, G6PD Tondela. Two of her three daughters, asymptomatic, with G
Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1
"... Germline mutations that inactivate BRCA1 are responsible for breast and ovarian cancer susceptibility. One possible outcome of genetic testing for BRCA1 is the finding of a genetic variant ..."
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Germline mutations that inactivate BRCA1 are responsible for breast and ovarian cancer susceptibility. One possible outcome of genetic testing for BRCA1 is the finding of a genetic variant
Diphtheria Toxin-related a-Melanocyte-stimulating Hormone Fusion Toxin INTERNAL IN-FRAME DELETION FROM T h P 7 T O His4Rs RESULTS IN THE FORMATION OF A HIGHLY POTENT FUSION TOXIN WHICH IS RESISTANT TO PROTEOLYTIC DEGRADATION*
"... We have previously reported the genetic construc-tion and properties of a fusion protein which was com-posed of the enzymatically active and membrane trans-location domains of the diphtheria toxin and the recep-tor-specific ligand a-melanocyte-stimulating hormone ..."
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We have previously reported the genetic construc-tion and properties of a fusion protein which was com-posed of the enzymatically active and membrane trans-location domains of the diphtheria toxin and the recep-tor-specific ligand a-melanocyte-stimulating hormone
Construction of Escherichia coli K-12 in-frame, single-gene knockout mutants: the Keio collection. Mol. Syst. Biol 2:2006.0008
, 2006
"... We have systematically made a set of precisely defined, single-gene deletions of all nonessential genes in Escherichia coli K-12. Open-reading frame coding regions were replaced with a kanamycin cassette flanked by FLP recognition target sites by using a one-step method for inactivation of chromosom ..."
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Cited by 714 (7 self)
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of chromosomal genes and primers designed to create in-frame deletions upon excision of the resistance cassette. Of 4288 genes targeted, mutants were obtained for 3985. To alleviate problems encountered in high-throughput studies, two independent mutants were saved for every deleted gene. These mutants—the ‘Keio
Escherichia
"... DH-L1042 flaA in-frame deletion in EGDe ∆flaA [1] DH-L1156 mogR in-frame deletion in EGDe ∆mogR [1] DH-L1179 Tn917 insertion in flaA in DH-L1156 [1] DH-L1248 flaA in-frame deletion in DH-L1156 ∆mogR ∆flaA This study DH-L1273 degU in-frame deletion in EGDe ∆degU This study DH-L1274 degU in-frame dele ..."
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DH-L1042 flaA in-frame deletion in EGDe ∆flaA [1] DH-L1156 mogR in-frame deletion in EGDe ∆mogR [1] DH-L1179 Tn917 insertion in flaA in DH-L1156 [1] DH-L1248 flaA in-frame deletion in DH-L1156 ∆mogR ∆flaA This study DH-L1273 degU in-frame deletion in EGDe ∆degU This study DH-L1274 degU in-frame
Results 1 - 10
of
365
