Reveals genes recessive. Medical search. Frequent questions

The same study revealed that his albinism was caused by a mutation of the SLC45A2 gene. (wikipedia.org)
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. (mpg.de)
A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. (mpg.de)
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. (mpg.de)
Genetic analysis with reciprocal crosses between tiller mutants and wild-type plants revealed that mutants possess a recessive mutation in a single locus, termed Monoculm 1 ( MOC1 ). (the-scientist.com)
It is caused by a point mutation (G→T) at nucleotide position 559 of the gene, bovine solute carrier family 35 member 3 (SLC35A3). (researchgate.net)
Surprisingly, the sequence analysis of PCR product also revealed the presence of two previously unknown homozygous mutations (TG→CT) at nucleotide positions 554 and 555 in addition to the previously reported heterozygous mutation at position 559. (researchgate.net)
3] Nearly all patients with NBS are homozygous for the same founder mutation, ie, deletion of 5 bp (657del5) in the NBS1 gene, which encodes the protein nibrin. (medscape.com)
Using a forward genetic screen, we identified the recessive boygirl ( byg ) mutation. (plos.org)
The byg mutation is an A to T transversion causing a premature stop codon in the gene encoding MAP3K4 (also known as MEKK4), a mitogen-activated protein kinase kinase kinase. (plos.org)
Our data indicate, for the first time, a requirement for MAPK signaling in the developing XY gonad in order to facilitate normal expression of SRY and the downstream testis-determining genes and also suggest that reduced dosage of MAP3K4 may be the cause of a previously described autosomal sex-reversing mutation in the mouse. (plos.org)
In 50 cases, there was a causative mutation in a known monogenic disease gene. (uni-koeln.de)
Thus, whole exome sequencing allows the detection of the causative mutation in 2/3 of affected individuals, thereby presenting the etiologic diagnosis, and allows identification of novel candidate genes. (uni-koeln.de)
In this study, we documented a clinical and molecular investigation of a consanguineous Pakistani family segregating LGMD in an autosomal recessive form and identified a novel homozygous missense mutation in the TTN gene located on chromosome 2q31.2. (biomedcentral.com)
To the best of our knowledge the molecular studies on mutation in the TTN gene is reported for the first time from Pakistan. (biomedcentral.com)
No mutation was identified in any of the transcription factor genes examined. (bgu.ac.il)
Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII. (humandiseasegenes.nl)
In a study published March 29 in the journal PLoS Genetics, however, a team of University of Georgia scientists reveals the mutation behind the distinctive, thick bands of yellow "double flowers" that the post-Impressionist artist painted more than 100 years ago. (uga.edu)
Their initial findings suggested that a single, dominant gene was responsible for creating the double-flowered mutation. (uga.edu)
Subsequent crosses of the offspring revealed that a second mutation, which is recessive to both the double-flowered mutation and the wild-type version of the gene, results in a third flower type that is intermediate in form-being elongated and yellow-but tubular and containing the reproductive structures of the interior florets. (uga.edu)
The scientists identified the responsible gene and sequenced it to show that in the double-flowered mutation, the portion of the gene that functions as an on/off switch is disrupted so that the instructions for making the outer rays are turned on in the portions of the plant that would normally produce the internal disc florets. (uga.edu)
In the second mutation, which results in the tubular florets, the insertion of a "jumping gene" disrupts the ability of the plant to produce normal ray florets. (uga.edu)
Finally, the scientists screened hundreds of sunflower varieties-wild type, double-flowered and tubular-and found that wild-type sunflower varieties never have a mutation in the HaCYC2c gene, while the double-flowered varieties always have the same mutation in the on/off switch. (uga.edu)
In this Review, we outline the current genetic knowledge, emphasizing recent discoveries and emerging concepts such as the implication of distinct types of mutation, variability in mutated genes in diverse genetic ancestries and gene-environment interactions. (cdc.gov)
Cystic fibrosis (CF) is an autosomal required intravenous fluid therapy and stable, revealed a thriving child with recessive condition caused by the was discharged after correction of his the following serum biochemical re- mutation of the cystic fibrosis trans- biochemical abnormalities. (who.int)
PFIC1 is caused by a genetic mutation in the ATP8B1 gene on chromosome 18q21-22. (medscape.com)
PFIC2 is caused by a mutation in the ABCB11 gene on chromosome 2q24 that encodes the bile salt export pump (BSEP). (medscape.com)
In PFIC3, a mutation in the gene ABCB4 on chromosome 7q21 encodes the protein MDR3, which functions in the translocation of phosphatidylcholine across the canalicular membrane. (medscape.com)
A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations. (lu.se)
A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease). (lu.se)
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene. (lu.se)

Regions of chromosomes that carry an identical genetic sequence from each parent are likely to harbor recessive mutations. (spectrumnews.org)
In the new study, researchers instead screened 1,000 families, consisting of 5,431 individuals, registered in the Autism Genetic Resource Exchange database, a gene bank of families with at least two children who have autism. (spectrumnews.org)
We localized a new gene locus for PCD to a region of homozygosity by descent on chromosome 5p15-p14 with a parametric multipoint logarithm of odds ratio (LOD) score of Zmax = 3.51 flanked by markers D5S2095 and D5S502 within an interval of 20 centimorgans sex-averaged genetic distance. (nih.gov)
In summary, our analysis provides a better understanding of the genetic architecture of autism in isolated populations by highlighting the role of both common and rare gene variants and pointing at new autism-risk genes. (nature.com)
1 The heritability of autism is very high 2 and molecular genetic studies revealed that the genetic risk for autism is shaped by a combination of rare and common variants. (nature.com)
Previous genetic studies indicated that individuals from Scotland, Norway, Sweden, Ireland, Iceland, and British Isles have significantly contributed to the current gene pool of the Faroese population. (nature.com)
In this study, InDel and SSR molecular markers were used to construct a high resolution genetic map and define carotenoid isomerase (BrCRTISO) as the candidate gene for Br-or. (usda.gov)
Genetic analysis revealed that the phenotype of the orange head trait was controlled by a single recessive gene, Br-or. (usda.gov)
Genetic studies have clarified that most microcephaly genes encode ubiquitous proteins involved in mitosis and in maintenance of genomic stability, but the effects of their inactivation are particularly strong in neural progenitors. (cancerindex.org)
To date, genetic changes in several distinct genes have been reported to cause PSS. (rarediseases.org)
The genetic constitution of an organism as revealed by genetic or molecular analysis, i.e. the complete set of genes, both dominant and recessive, possessed by a particular cell or organism. (iupac.org)
In chapter 2, by using CRISPR/Cas9 gene editing, genetic analysis and biochemical assays, I identified the differential pairings of typical NLR receptor SOC3 with atypical NLR proteins CHS1 or TN2 to guard the homeostasis of the E3 ligase SAUL1. (ubc.ca)
Molecular genetic studies of familial cancer syndromes identified and defined the recessive nature of tumor suppressor genes and resolved the paradox of why tumors arising in such families exhibited an autosomally dominant pattern of inheritance. (scienceopen.com)
For comprehensive investigation of the genetic heterogeneity of diseases with a wide range of causative genes, such as hearing loss, and to identify novel candidate genes, WES analysis overcomes the limitations of targeted analysis and is considerably more cost-effective than whole genome sequencing (WGS) analysis. (biomedcentral.com)
In this study, we sought to explore the wide spectrum of genetic heterogeneity associated with hearing loss in Japan, and to discover novel candidate genes associated with hearing loss, using trio analysis of probands and their parents, and four originally developed gene groups ranked by priority (tiers), as a new strategy to filter candidate variants. (biomedcentral.com)
Background: As microRNAs play important roles in cancer development and progression by regulating the expressions of oncogenes and tumor suppressor genes though interacting with the 3' untranslated region (UTR) of target genes, we aimed to evaluate the association between genetic variants of miRNAs and their binding sites and prognosis in patients with colorectal cancer (CRC). (iiarjournals.org)
Using targeted next-generation sequencing of 414 known deafness genes, we identified compound heterozygous mutations in TMC1 and MYO15A as the genetic causes of the hearing loss in those families. (hindawi.com)
The aim of this meta-analysis was to discover the effect of dominant and recessive genetic models of LSP1 gene rs3817198 polymorphism on breast cancer risk. (waocp.com)
Many genetic diseases are due to recessive genes. (ecohealth.net)
Eye color is not an example of a simple genetic trait, and blue eyes are not determined by a recessive allele at one gene. (meltingpointathens.com)
We report 8 patients from 7 Jordanian families, 6 of whom underwent genetic testing and were found to have a 12 bp (155-166 del) deletion within the tubulin-specific chaperone E (TBCE gene) in exon 3 at 1q42-43. (who.int)
Autosomal Dominant Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)
Genetic analysis can reveal abnormalities in the gene causing both the autosomal dominant and the autosomal recessive forms. (msdmanuals.com)
Integrative genetic analysis illuminates ALS heritability and identifies risk genes. (cdc.gov)
The condition of pachydermoperiostosis may masquerade as acromegaly but is a genetic disorder, usually autosomal recessive, leading to elevated prostaglandin E2 levels. (medscape.com)
Despite their genetic distinctiveness, PFIC1 and PFIC2 have few clinical differences, and both are caused by the absence of a gene product required for canalicular export and bile formation. (medscape.com)
The host genetic factors are assumed to play a critical role in tuberculosis pathogenesis, through impact on the gene expression of cytokines and chemokines, which are implicated in the host immune response. (cdc.gov)

Although harboring different mutant alleles, patients presented remarkably similar phenotypes typified by an autosomal recessive progressive microcephaly with profound developmental delay, progressive brain atrophy, and hypotonia ( 6 , 7 , 9 ). (frontiersin.org)

The disease is usually inherited as an autosomal recessive trait. (nih.gov)
Limb-girdle muscular dystrophies (LGMDs) are clinically and genetically heterogeneous muscle disorders inherited as an autosomal recessive or dominant pattern. (biomedcentral.com)

This study aimed to identify the pathogenic variant in a consanguineous Pakistani family with autosomal recessive LGMD type 10. (biomedcentral.com)

By screening for recessive mutations, which are present in both copies of a gene, researchers have identified four autism candidates that may be involved in neuronal signaling, according to a study published 12 April in PLoS Genetics 1 . (spectrumnews.org)

This newly identified variant is the first to be reported to act in a recessive mode of inheritance in this gene. (bmj.com)
SWDs were absent in F 1 hybrids of C3H/HeJ and C57BL/6J mice, consistent with recessive inheritance. (jneurosci.org)
Unlike the prediction for single-gene inheritance, almost all of the N 2 mice (backcrosses of the F 1 hybrids to C3H/HeJ) showed SWDs, and at a higher frequency than the C3H/HeJ parents. (jneurosci.org)
Peeling skin syndrome belongs to the groups of congenital ichthyosis and skin fragility disorders with autosomal recessive inheritance. (rarediseases.org)
Further, according to Online Mendelian Inheritance in Man (OMIM), hundreds of genes are associated with syndromic hearing loss. (biomedcentral.com)
ORs and their reported 95% confidence interval (CI) for dominant and recessive inheritance models were extracted from final retrieved studies. (waocp.com)

With this we could allude to an intrinsic bias of essentiality across cellular compartments, uncover two opposing roles for tumour suppressor genes and link autosomal-recessive disorders with growth-retardation phenotypes to early embryogenesis. (nature.com)

Under this perspective, genes mutated in congenital microcephaly represent interesting candidates. (cancerindex.org)
Furthermore, the systematic analysis revealed PEPs-induced transcriptomic changes linking to other disease risks in rats, including diabetes, congenital defects, auto-recessive disorders, physical deformation, and carcinogenesis. (cdc.gov)
The remaining 10 cases were identified as Alport syndrome (4), autosomal-recessive polycystic kidney disease (2), congenital anomalies of the kidney and urinary tract (3), and APECED syndrome (1). (uni-koeln.de)
Pathogenic mutations in the gene encoding the giant skeletal muscle protein titin (TTN) are associated with several muscle disorders, including cardiomyopathy, recessive congenital myopathies and limb-girdle muscular dystrophy (LGMD) type10. (biomedcentral.com)
The prevalence of autosomal recessive muscle disorders like LGMD and congenital muscular dystrophies are rare in Pakistani populations. (biomedcentral.com)
The aim of the present study was to describe the clinical and hematologic picture of members of a Bedouin family with severe congenital thrombocytopenia associated with neutropenia and anemia and to determine the possible involvement of hematopoietic transcription factor genes in their disease. (bgu.ac.il)
Aminolevulinic acid dehydratase deficiency porphyria (ADP), congenital erythropoietic porphyria (CEP), erythropoietic protoporphyria (EPP), and hepatoerythropoietic porphyria (HEP) are autosomal recessive. (medscape.com)
Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia. (lu.se)
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. (lu.se)
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). (lu.se)

The researchers also sequenced the four candidate genes in another 418 individuals with autism and 371 controls, all from the ARRA Autism Sequencing Collaborative. (spectrumnews.org)
The screening of seven candidate genes, failed to reveal any disease-causing mutations. (nih.gov)
To detect pathogenic variants in multiple deafness genes, in addition to novel candidate genes associated with hearing loss, whole exome sequencing (WES), followed by analysis prioritizing genes categorized in four tiers, were applied. (biomedcentral.com)
Our findings demonstrate that four-tier assessment of WES data is efficient and can detect novel candidate genes associated with hearing loss, in addition to pathogenic variants of known deafness genes. (biomedcentral.com)
In 5 families, in whom mutations in known monogenic genes were excluded, we applied homozygosity mapping for variant filtering and identified 5 novel candidate genes (RBM48, FAM186B, PIASI, INCENP, and RCORI) for renal ciliopathies. (uni-koeln.de)

Deep sequencing reveals 50 novel genes for recessive cognitive disorders. (mpg.de)
Glycogen storage disease (GSD) type I, also known as von Gierke disease, is a group of inherited autosomal recessive metabolic disorders of the glucose-6- phosphatase system which helps maintain glucose homeostasis. (medscape.com)

Mutations in NSUN2 cause autosomal-recessive intellectual disability. (mpg.de)
HINT1 gene mutations that cause autosomal recessive axonal neuropathy with neuromyotonia lead to production of a HINT1 protein with little or no function. (medlineplus.gov)
NPHS2 was recently identified as a gene whose mutations cause autosomal recessive steroid-resistant nephrotic syndrome. (jci.org)

Data from SNP array and whole exome sequencing revealed that individuals with autism had a higher burden of rare exonic copy-number variants altering autism associated genes (deletions ( p = 0.0352) or duplications ( p = 0.0352)), higher inbreeding status ( p = 0.023) and a higher load of rare homozygous deleterious variants ( p = 0.011) compared to controls. (nature.com)

A genome scan revealed a high correlation of the phenotype with markers on chromosome 9. (jneurosci.org)
The finding that this character segregated in all donors expressing given MHC haplotypes indicated that the gene regulating the expression of the NK-defined alloantigen is present on chromosome 6. (rupress.org)
The TMC1 gene is located on chromosome 9q21 and contains 24 exons that encodes a 760 amino acid membrane protein TMC1 with six transmembrane domains [ 12 , 13 ]. (hindawi.com)
The MYO15A gene is located at chromosome 17p11.2 and contains 66 coding exons, which encodes an unconventional myosin protein Myosin XVA [ 19 ]. (hindawi.com)
It is linked to the TBCE gene on chromosome 1q42-43 which encodes for the tubulin-specific chaperone E protein [2-4]. (who.int)
sults: sodium 133 mmol/L, potassium membrane regulator gene ( CFTR ) on He was readmitted 5 more times 3.4 mmol/L, chloride 100 mmol/L and chromosome 7. (who.int)
Current literatures report a defect in the Son of sevenless-1 gene (SOS-1) on chromosome 2p21-p22 (HGF1) as a possible cause of this condition. (bvsalud.org)
Dystrophin gene is the largest human gene with 79 exons, codes for protein dystrophin required for stabilisation of protein complex at sarcolemma, the abnormal DMD gene is on X chromosome at Xp21 locus. (who.int)

In this study, by targeted next-generation sequencing of 414 known deafness genes, we identified compound heterozygous mutations p.R34X/p.M413T in TMC1 and p.S3417del/p.R1407T in MYO15A in two recessive Chinese Han deaf families. (hindawi.com)

It has been reported that mutations in TMC1 may cause both prelingual profound autosomal recessive deafness DFNB7/11 and postlingual progressive autosomal dominant deafness DFNA36 [ 13 ]. (hindawi.com)
HGF is more commonly associated with an autosomal dominant gene 4 . (bvsalud.org)

To identify a gene locus for PCD, we studied a large consanguineous family of Arabic origin. (nih.gov)
To develop molecular markers for breeding of Chinese cabbage lines with high carotenoid content and to isolate the candidate gene underlying carotenoid synthesis, we performed fine mapping of the orange locus in a F2S4 mapping population. (usda.gov)
ORF1 was found to be co-segregated with the Bo-or locus and was the most likely candidate gene for Br-or. (usda.gov)

hPSC-enriched essential genes mainly encode transcription factors and proteins related to cell-cycle and DNA-repair, revealing that a quarter of the nuclear factors are essential for normal growth. (nature.com)
The mutated genes are predicted to encode molecules essential for building the intricate neural architecture of the visual system. (mpg.de)

To the our best of knowledge, this is the first study to report the existence of homozygous and heterozygous mutations at positions 554, 555 and 559 in exon 4 of SLC35A3 gene in Indian Holstein cattle. (researchgate.net)

CT vs. TT: OR = 0.92, 95% CI = 0.80-1.06, P = 0.28), recessive model (CC vs. TT+TC: OR = 0.96, 95% CI: 0.80-1.16, P = 0.69), or dominant model (TC+CC vs. TT: OR = 0.93, 95% CI = 0.76-1.15, P = 0.51). (cdc.gov)

Using our recently established haploid human pluripotent stem cells (hPSCs), we generated a genome-wide loss-of-function library targeting 18,166 protein-coding genes to define the essential genes in hPSCs. (nature.com)
This gene encodes a large protein that functions as a GDP to GTP exchange factor. (cancerindex.org)
What does this gene/protein do? (cancerindex.org)
What pathways are this gene/protein implicaed in? (cancerindex.org)
We now recognize that tumor suppressor genes regulate diverse cellular activities, including cell cycle checkpoint responses, detection and repair of DNA damage, protein ubiquitination and degradation, mitogenic signaling, cell specification, differentiation and migration, and tumor angiogenesis. (scienceopen.com)
In the developing male (XY) gonad, sex-determining region of the Y (SRY) protein acts to up-regulate expression of the related gene, SOX9 , a transcriptional regulator that in turn initiates a downstream pathway of testis development, whilst also suppressing ovary development. (plos.org)
Expression analysis of mutant XY gonads at the same stage also reveals a dramatic reduction in Sox9 and, crucially, Sry at the transcript and protein levels. (plos.org)
The Y-linked sex determining gene SRY regulates this process by initiating a pathway of gene and protein expression, including the expression of critical autosomal genes such as SOX9 . (plos.org)
This mutant, which we called boygirl ( byg ), was shown to contain an early stop codon that disrupts the autosomal gene encoding MAP3K4, a component of the mitogen-activated protein kinase (MAPK) signaling pathway. (plos.org)
Leukocyte-specific protein 1 (LSP1) gene is located on 11p15.5 and encodes an F-actin binding protein. (waocp.com)
This gene encodes a MYND-containing zinc-binding protein with a nuclear localization sequence. (nih.gov)
This gene encodes the protein FIC1, also known as ATP8B1. (medscape.com)
This suggests that in most patients with PFIC-2, the gene defect is sufficiently severe to produce no product or a protein that cannot be inserted into the canalicular membrane. (medscape.com)
20 000 protein coding genes (Parsons mutations. (who.int)
In vitro experiments have then revealed that only PDLIM1 is cleaved directly by the protease, and that a fragment of about 8 kDa is released from the C-terminal portion of the protein. (lu.se)

Our analysis supports the role of several genes/loci associated with autism (e.g. (nature.com)
So far, 95 published autosomal-recessive nonsyndromic HI (ARNSHI) loci have been mapped, and 41 ARNSHI genes have been identified. (nih.gov)

[ 2 ] Therefore, blood was collected for germline testing of the SLCO2A1 and HPGD genes by next-generation sequencing and dosage analysis (Leeds Genetics Laboratory, Leeds, UK). (medscape.com)
As a result of the rapid advances in genetics technology and the Human Genome Project, most of the estimated 100,000 genes in humans will be identified by the year 2005 (1). (cdc.gov)

Next generation sequencing reveals a novel pathogenic variant in the ATMgene Introduction: Ataxia telangiectasia (A-T) is a uncommon autosomal recessive multisystemic illness. (iowaodes.com)
Ataxia-telangiectasia (AT) is a rare, autosomal recessive, neurodegenerative disorder in which the diagnosis is obvious when both ataxia and telangiectasia are present. (medscape.com)

PSS may be caused by disease-causing variants in multiple genes encoding proteins with crucial functions for cell-cell adhesion: structural proteins forming cell-cell adhesion points (desmosomes, corneodesmosomes) and inhibitors of epidermal proteases that control skin shedding. (rarediseases.org)

Could analysis of testis-specific genes, as biomarkers in seminal plasma, predict presence of focal spermatogenesis in non-obstructive azoospermia? (nih.gov)

In 4 of the 16 individuals, the researchers found recessive mutations that affect brain-related proteins. (spectrumnews.org)
Subsequent characterization of tumor suppressor proteins revealed their widespread involvement in sporadic cancers and pinpointed key mechanisms that protect animals against tumor development. (scienceopen.com)

more than 100 deafness genes have been identified, and the number is increasing. (biomedcentral.com)
however, it is not suitable for detection of very rare or novel deafness genes. (biomedcentral.com)
Using this strategy, we successfully detected candidate pathogenic variants in 11 previously reported deafness genes in 21 families, as well as eight single candidate deafness genes in 10 families. (biomedcentral.com)

One of these mutations is in UBE3B, which is closely related to UBE3A , the gene mutated in Angelman syndrome . (spectrumnews.org)
Omenn syndrome is the result of mutations in the genes coding for recombinases (recombination activating genes). (medscape.com)
Nijmegen breakage syndrome (NBS) is also an autosomal recessive chromosomal instability syndrome. (medscape.com)
ABSTRACT Sanjad Sakati syndrome is a rare autosomal recessive disorder that has been described in Arabs. (who.int)
Il s'agit de la première série de cas du syndrome de Sanjad-Sakati confirmés génétiquement en Jordanie. (who.int)
Sanjad Sakati syndrome or hypoparathyroidism-retardation-dysmorphism (HRD) is an autosomal recessive disorder that was first described in 1988 [1]. (who.int)

They found 24 recessive mutations in individuals with autism compared with 11 in controls. (spectrumnews.org)
It also revealed three genes involved in synaptic plasticity, RIMS4 , KALRN , and PLA2G4A , carrying de novo deleterious variants in individuals with autism without intellectual disability. (nature.com)

If expression of a trait requires only one copy of a gene (one allele). (msdmanuals.com)

For CRC, polymorphisms in the genes involved in tumor progression, apoptosis, and angiogenesis have already been extensively studied for their association with cancer susceptibility and prognosis ( 1 - 7 ). (iiarjournals.org)

It is therefore conceivable that the inhibition of the function of these genes may specifically affect the proliferation and survival of brain tumor cells. (cancerindex.org)

It is an autosomal recessive disorder in which there is an AGL gene mutations which causes deficiency in glycogen debranchinging enzyme and limited storage of dextrin. (medscape.com)

Two autosomal recessive syndromes involving DNA repair indicate some interaction between the immune system and neurologic function. (medscape.com)

None of Snowflake's offspring were albino, but all should be heterozygous, recessive carriers, for the albino gene. (wikipedia.org)

Our study concludes that WES is a successful molecular diagnostic tool to identify pathogenic variants in large genes such as TTN in highly inbred population. (biomedcentral.com)

MRIS often reveals white matter abnormalities and bilateral thalamus lesions. (wikipedia.org)

In conclusion, patients with recessive FBLN4 mutations are predominantly characterized by aortic aneurysms, arterial tortuosity and stenosis. (uzh.ch)
To date, more than 60 mutations in TMC1 are reported worldwide [ 15 ], with the recessive mutations predominantly associated with prelingual severe-to-profound hearing loss [ 15 , 16 ]. (hindawi.com)

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. (mpg.de)
Involvement of the FBLN4 gene in cardiovascular pathology was shown in a murine model and in three patients affected with cutis laxa in association with systemic involvement. (uzh.ch)
Direct sequencing of 17 patients with cutis laxa revealed no FBLN4 mutations. (uzh.ch)
Results: Among seven target variants, rs1044129 at the miR-367 binding site of calcium channel ryanodine receptor gene 3 (RYR3) was associated with relapse-free survival (RFS) for colon cancer patients as a recessive model in a univariate analysis. (iiarjournals.org)
p.Arg32936His) in the TTN gene in the index patients. (biomedcentral.com)
Sequencing of the ZMYND15 gene in a cohort of infertile Chinese men reveals novel mutations in patients with teratozoospermia. (nih.gov)
In PFIC3, patients have a similar clinical presentation, but laboratory results reveal an elevated serum GGT. (medscape.com)

Genes responsible for hereditary hearing loss are highly heterogeneous. (biomedcentral.com)
Zhao H, Race V, Matthijs G, De Jonghe P, Robberecht W, Lambrechts D, Van Damme P. Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy. (medlineplus.gov)
It is the most common hereditary neuromuscular disorder and is inherited in an X-linked recessive manner. (who.int)

In the April 10 issue of Nature , Xueyong Li and colleagues at the Chinese Academy of Sciences , Beijing, China, report the isolation and characterization of a gene that regulates rice branching ( Nature , 422:618-620, April 21, 2003). (the-scientist.com)

Clinical examination revealed left esotropia, severe muscle hypotonia, and decreased deep tendon reflexes, particularly with respect to both her lower limbs. (frontiersin.org)
LGMD shows severe clinical manifestations such as proximal muscle weakness, loss of ambulation between third and sixth decade, severe disability within 20 years of onset, and muscle biopsy might reveal dystrophic changes [ 3 , 4 ]. (biomedcentral.com)

A similar gene in mice has been shown to act as a testis-specific transcriptional repressor by recruiting histone deacetylase enzymes to regulate spatiotemporal expression of many haploid genes. (nih.gov)

The monogenic model did not reveal higher heritability estimates for 6 traits analyzed. (avma.org)

take advantage of their discovery of SWDs in C3H/He mice to begin a search for SWD susceptibility genes. (jneurosci.org)

MicroRNAs (miRNAs), a class of small, endogenous, non-coding RNAs, are able to regulate gene expression by translational repression or mRNA degradation of the target, thereby affecting critical functions in various physiological processes, ranging from cell proliferation to apoptosis ( 8 , 9 ). (iiarjournals.org)

It is reported to have a phenotype frequency of 1:175,000 and a gene frequency of 1:350,000 5 . (bvsalud.org)

Auditory features of the affected individuals are consistent with that previously reported for recessive mutations in TMC1 and MYO15A . (hindawi.com)

Overall, the identified PEPs-induced dysregulated genes, molecular pathways and functions, and miRNA-mediated transcriptional activities provide important insights into the disease mechanisms. (cdc.gov)

Conclusions: A unique autosomal recessive bone marrow disorder with prominent involvement of megakaryocytes is described. (bgu.ac.il)

Expression of all four genes - UBE3B, CLTCL1, NCKAP5L and ZNF18 - increases after neurons fire signals, the study found, suggesting that they play a role in regulating neuronal signaling. (spectrumnews.org)
The maintenance of pluripotency requires coordinated expression of a set of essential genes. (nature.com)
Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
Specific recognition of human CD3-CD16+ natural killer cells requires the expression of an autosomic recessive gene on target cells. (rupress.org)
An embedded gene selection method using knockoffs optimizing neural network Background: Gene choice refers to discover a small subset of discriminant genes from the gene expression profiles. (iowaodes.com)
Analysis of embryonic XY gonads suggests that sex reversal is caused by delayed and reduced expression of the sex-determining gene SRY . (plos.org)
Application on real gene expression data measured in lung tissue reveals clear clusters corresponding to different lung cancer subtypes. (bvsalud.org)

To date, more than 100 genes have been reported as associated with non-syndromic hearing loss [ 5 ]. (biomedcentral.com)

Fig. 2: Analysis of cell-essential genes. (nature.com)
Fig. 4: Analysis of hESC-essential genes for the survival and pluripotency of hESCs. (nature.com)
Fig. 5: Analysis of growth-restricting genes in hESCs. (nature.com)
This analysis revealed that the character is inherited in an autosomic recessive fashion, and it is therefore different from MHC. (rupress.org)
The way to choose genes that have an effect on particular phenotypic traits successfully is a vital analysis work within the subject of biology. (iowaodes.com)
Analysis of XY byg/byg gonads at 11.5 d post coitum reveals a growth deficit and a failure to support mesonephric cell migration, both early cellular processes normally associated with testis development. (plos.org)
Sets of prioritized genes can be modified during analysis to increase the number of targeted genes, without resequencing the same samples. (biomedcentral.com)
In this meta-analysis, we included all studies that evaluated the association between LSP1 gene rs3817198 and breast cancer risk. (waocp.com)
b ) Western blot analysis of glomerular extracts revealed a 42-kDa band under reducing (red. (jci.org)
More detailed analysis revealed a family history of relatives with similar problems, and certain features were not in keeping with this diagnosis. (medscape.com)

This may be due to the loss of intestinal lactase in adulthood, a condition transmitted by an autosomal recessive gene, which differs in humans according to race. (researchgate.net)

Pedigree analyses of HGF families were consistent with simple mendelian transmission pattern, although autosomal recessive cases have been reported in the literature. (bvsalud.org)

Anatomy15

Organisms10

Diseases72

Chemicals and Drugs31

Analytical, Diagnostic and Therapeutic Techniques and Equipment36

Psychiatry and Psychology4

Phenomena and Processes96

Disciplines and Occupations1

Anthropology, Education, Sociology and Social Phenomena3

Information Science4

Named Groups5

Health Care6

Geographicals3

Mutation31

Genetic27

Typified by an autosomal1

Inherited as an autosomal2

Family with autosomal recessive1

Screening for recessive mutations1

Inheritance6

Phenotypes1

Congenital10

Candidate genes5

Disorders2

Cause autosomal3

Whole exome1

Chromosome8

Known deafness genes1

Autosomal dominant2

Locus3

Encode2

Homozygous1

Dominant1

Protein15

Loci2

Genetics2

Ataxia2

Variants in multiple1

Biomarkers1

Proteins2

Deafness3

Syndrome6

Individuals with autism2

Allele1

Polymorphisms1

Tumor1

Deficiency1

Syndromes1

Heterozygous1

Pathogenic variants1

Abnormalities1

Predominantly2

Patients7

Hereditary3

Characterization1

Severe2

Haploid1

Monogenic1

Susceptibility1

Regulate1

Phenotype1

MYO15A1

Molecular1

Conclusions1

Expression7

Hearing Loss1

Analysis10

Humans1

Consistent1