Sentences with phrase «with heterozygous»

This series demonstrates common phenotypic features, including emerging dysmorphism, associated with heterozygous HNRNPU mutations.

They identified several causal variations in CCDC115 gene: a homozygous missense mutation, c. 92T > C (p.Leu31Ser) and this one was also compound heterozygous in combination with a heterozygous deletion of CCDC115 (in one family) and a homozygous missense mutation, c. 31G > T (p.Asp11Tyr).

Massive SVC Thrombus in a Woman With Heterozygous Methyl - Tetrahydrofolate Reductase A1298C Genetic Mutation

A Case of Therapy - Related Acute Myeloid Leukemia in a Patient With Heterozygous Mutations in the Ataxia Telangiectasia Mutated Gene

In the course of screening over 180 mutant mouse strains with a systematic battery of behavioral tests, Dr. Tsuyoshi Miyakawa and his colleagues found that mice with heterozygous knockout of the alpha - isoform of calcium / calmodulin - dependent protein kinase II (αCaMKII) exhibit behavioral deficits and other brain features consistent with bipolar disorder.

In June, he and his colleague Thaddeus Stappenbeck argued in Nature that all mouse studies should use littermate controls: When studying the activity of a particular gene, breed mice with and without that gene by starting with heterozygous parents.

As the number of susceptible but heterozygous moths increases, so, too, does the chance that they will breed with another heterozygous individual, eventually leading to larger numbers of resistant insects.

Random - bred Hartley strain guinea pigs which do not respond immunologically to conjugates of hapten and poly - L - lysine mere mated with heterozygous guinea pigs which do.

Not exact matches

«We found way more areas that were heterogeneous, heterozygous, than we expected if you just followed the logic of something that has been mating with itself for a long time,» said Lins.

The researchers bred two types of FOXP2 «knockout» mice: One group was homozygous, meaning the mice carried two copies of the disrupted gene; the second group was heterozygous, with one functional and one defective gene.

Laurent Keller at the University of Lausanne in Switzerland and Kenneth Ross at the University of Georgia, Athens, were scanning the genes of various populations of fire ants (Solenopsis invicta) when they noticed something strange: Queen ants who had their own colonies carried two copies of the dominant variety of a particular gene — they were homozygous for the variety, that is — while those who shared a nest with other queens were heterozygous, carrying only one copy.

In the haltere, the same is true of the regulator of the size regulators: Heterozygous Ubx mutant flies have enlarged halteres (1), and flies with extra copies of the Ubx locus have shrunken halteres (7).

Heterozygous missense mutations of the NSMF (NMDA receptor synaptonuclear signaling and neuronal migration factor, also known as NELF) gene have been associated with Kallmann syndrome.

The most common mutation associated with familial amyloidotic polyneuropathy is V30M; in addition to polyneuropathy, cardiac involvement can be manifested early as conduction disturbances in patients with the V30M mutation and as cardiomyopathy in some patients with the V30M mutation who have advanced disease and in patients with familial amyloidotic polyneuropathy with other mutations.12, 13 The predominant mutation associated with familial amyloidotic cardiomyopathy is V122I; patients with this mutation are susceptible to isolated cardiac involvement and usually do not have polyneuropathy.9 Most patients are heterozygous for the TTR mutations, and the amyloid deposits consist of mutant and nonmutant transthyretin.14, 15

Both types of male mice (the heterozygous mice containing the FOXP2 mutation and the wildtype mice) were placed in several unique contexts — housed with an active wildtype female mouse, in proximity of only the urine of wildtype females, or housed with a sleeping female or sleeping male mouse.

Thus, while XL280α shares markers with both parents, it only has one copy of each chromosome (it is haploid) and is not heterozygous anywhere in its genome.

Parents transmit their alleles to offspring according to autosomal Mendelian genetic rules; thus, if a parent is homozygous, then that parent transmits one mutation; if heterozygous, then the mutant allele is transmitted with 50 % probability.

To test the potential of a homozygous lethal «null» allele to nevertheless contribute to organismal phenotype, we combined an Xpd † XPCS allele with a viable XpdTTD allele by crossing the corresponding heterozygous animals.

They reported a heterozygous intronic c. 1641 +6 T > C JAK2 variant (rs182123615) found in two independent familial cases diagnosed with gastric lymphoma and Hodgkin lymphoma and, an insertion 846 in.

This showed all markers as C57BL / 6J allele - type - the only exceptions being the closest markers flanking the targeted Gad2 locus were segregating with the Gad2 - IRES - Cre allele (i.e., heterozygous for C57BL / 6J; 129 allele - type).

Furthermore, anaemia and developmental delay present in patients with TTD [24] and in XpdTTD / TTD mice [15] were both partially rescued in compound heterozygous XpdTTD / † XPCS mice (Figure 2D and 2E).

To determine whether the homozygous lethal Xpd † XPCS allele was unique in its ability to ameliorate symptoms associated with the XpdTTD allele, we generated compound heterozygous XpdTTD / † XP mice by crossing the corresponding heterozygous animals.

In compound heterozygous mice, both homozygous lethal Xpd † XPCS and Xpd † XP alleles were able to alleviate XpdTTD - specific cutaneous and anaemic features and can thus be defined as dominant over the XpdTTD allele with respect to these phenotypes.

Secondly, highlighting the potential relevance of current findings to all diploid organisms including humans was the observation that in one compound heterozygous animal, the Xpd allelic relationship could shift from Adominant arecessive to Arecessive adominant with respect to different phenotypes in a time - dependent and tissue - specific manner (see below and Table 2).

Although interallelic complementation between two endogenous mutant alleles has been described in cells from a compound heterozygous patient with methylmalonic acidaemia, no observable effects on disease outcome were noted in the patient [28].

We addressed the potential of different recessive alleles to contribute to the enigmatic pleiotropy associated with XPD recessive disorders in compound heterozygous mouse models.

Examples of compound heterozygous patients in which a second, presumed null allele is likely to contribute to disease outcome are provided above in comparison to corresponding homo - or hemizygous patients with the same causative allele.

In 2017, a 153 SNP analysis (with markers covering all 19 chromosomes and the X chromosome) was performed on the first generation of rederived mice at The Jackson Laboratory Repository (heterozygous for the Gad2 - IRES - Cre allele).

Because patients with TTD, XPCS, and CS (but not XP) and the corresponding mouse models share similar accelerated progeroid symptoms [12,13,15,23], we next addressed ageing - related parameters in compound heterozygous mice (Figure 3).

Mice with a homozygous SMN1 deletion are the offspring of heterozygous carriers, mimicking the SMA genetics in humans.

Homozygous loss - of - function offspring of two heterozygous parents occurred less frequently than expected (deficit of 136 per 10,000 transmissions for variants with MAF < 2 %, 95 % confidence interval (CI) = 10 — 261).

In these circumstances a breeding nucleus is defined as up to 3 breeding pairs, with a breeding pair comprising a heterozygous mutant plus a wildtype mate of the appropriate genetic background (if required).

TBS - soluble a) Aβ40 and b) Aβ42 levels in cortex + hippocampus homogenates from non-transgenic -LRB-- / --RRB-, heterozygous (+ / --RRB- and homozygous transgenic (+ / +) rats at different ages (3 months, 7 months and 13 — 15 months) were quantified with specific G2 - 10 / W0 - 2 and G2 - 13 / W0 - 2 sandwich ELISAs, respectively.

A 50 % reduction in HDAC4 restored these and other electrophysiological changes in both the R6 / 2 model, a transgenic over-expresser of Exon 1 HTT with an expanded polyglutamine repeat, and heterozygous Q175 knock - in mice (Q175 + / --RRB-, which carry one normal and one mutant HTT allele with an expanded repeat of ~ 190 polyglutamines, in addition to reversing behavioral alterations in R6 / 2 mice (Mielcarek et al, 2013; PLOS Biology, in press).

We conclude that the large number of mouse mutants and human de novo mutations may be due to the combination of the Chd7 gene being a large target and the fact that many heterozygous carriers of the mutations are viable individuals with a readily detectable phenotype.

Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer

For a rare autosomal recessive disorder affecting 1 in 100,000 individuals, compound - heterozygous variants with VAFs of 0.01 in a certain population are too common: their combined frequency is 0.0001, or 1 in 10,000.

Harmful effects associated with gene modifications are minimized by maintaining heterozygous lines.

Sequence analysis of DNA samples from 78 patients with CMML / aCML samples identified heterozygous JAK2V617F mutations in 7 samples and a homozygous mutation in 1 sample.

Consistent with these reduced dilp5 levels, the body weight of mid-third-instar larvae (96 hours AEL) was markedly lower in the CCHa2 hemizygotes than in the heterozygous control regardless of sex (Fig 5C).

Moreover, many human tumors have highly abnormal numbers of chromosomes (that is, they are aneuploid), with initial chromosomal loss participating in the early steps of the transformation cascade in inherited cancers caused by heterozygous mutation in tumor suppressor genes and the more widespread aneuploidy characteristic of advance tumors thought to drive acquisition of malignant growth properties.??

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.

Heterozygous De Novo UBTF Gain - of - Function Variant Is Associated with Neurodegeneration in Childhood.

Sequencing of ARL15 in 375 severely insulin resistant patients identified four rare heterozygous variants, including an early nonsense mutation in a proband with femorogluteal lipodystrophy and non classical congenital adrenal hyperplasia, and an essential splice site mutation in a proband with partial lipodystrophy and a history of childhood yolk sac tumour.

Detection of early motor deficits, together with the genetic similarities to the human condition, would further support the use of heterozygous knock in mice as a tool for examining the early mechanisms of pathophysiology of HD and for screening potential treatments.

Hypercholesterolemia - prone mice that were engrafted with bone marrow obtained from homozygous or heterozygous Tet2 knockout mice had larger atherosclerotic lesions in the aortic root and aorta than did mice that had received control bone marrow.

We describe heterozygous ACTB deletions and nonsense and frameshift mutations in 33 individuals with developmental delay, apparent intellectual disability, increased frequency of internal organ malformations (including those of the heart and the renal tract), growth retardation, and a recognizable facial gestalt (interrupted wavy eyebrows, dense eyelashes, wide nose, wide mouth, and a prominent chin) that is distinct from characteristics of individuals with BRWS.

The current study compares findings from both CAG 140 KI and CAG 175 KI mice using the tapered balance beam task, with an emphasis on evaluating whether early deficits can be revealed in heterozygous KI mice.

The rationale behind this cutoff is that we argue 3 reads are the absolute minimum required to call a heterozygous variant - two reads with a non-reference base (to exclude sequence artifacts affecting only one read) and one with the reference base.

86/3: 15 ChIP - Seq analysis of lymphocytes from Li - Fraumeni patients reveals the drastic impact on p53 DNA binding of heterozygous TP53 mutations associated with early - onset cancers.