A homozygous p.Glu120Lys mutation in NANOS3 was identified in two sisters with primary amenorrhea. (hindawi.com)
Also, linkage analysis of an informative consanguineous family led to the discovery of a second homozygous RHO mutation (11). (molvis.org)
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)
Results We identified a homozygous 2 bp deletion in MMP21, encoding matrix metalloproteinase-21, as the sole coding mutation that segregated with the phenotype. (bmj.com)
In support of this finding, a homozygous missense mutation in MMP21 was identified previously in mice with N-Ethyl-N-Nitrosourea (ENU)-induced heterotaxy. (bmj.com)
Bidirectional whole gene sequencing showed a homozygous mutation leading to a valine 122 isoleucine substitution (V122I). (elsevierpure.com)
This study aimed to determine the relationship between in vitro mutation severity and clinical phenotype in a large international case series of patients with homozygous GCK mutations. (ox.ac.uk)
These are the first two cases of a homozygous GCK mutation diagnosed outside infancy. (ox.ac.uk)
We report the largest case series of homozygous GCK mutations to date and demonstrate that they can cause childhood-onset diabetes, with protein instability being the major determinant of mutation severity. (ox.ac.uk)
Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene. (scilifelab.se)
Here, we report the identification of the same SYNJ1 homozygous mutation in two affected siblings of a third pedigree. (cnr.it)
The penetrance of the homozygous C282Y mutation in the HFE gene causes all the problems of iron overload and consequent organ damage. (medscape.com)
It all comes back to the homozygous C282Y mutation. (medscape.com)
If that parent does not have the homozygous C282Y mutation, then you do not need to further screen or test that child, as he/she is heterozygous with no consequent iron overload. (medscape.com)
Familial12
MANNHEIM, Germany - Lomitapide , which reduces lipoprotein production in the liver, could help manage pediatric homozygous familial hypercholesterolemia (HoFH), suggest results of a trial that showed large reductions in circulating lipids . (medscape.com)
p>This registry will include children who are 5-11 years of age and who have homozygous familial hypercholesterolemia. (nemours.org)
This study evaluates the safety and efficacy of evinacumab in children 5 to 11 years of age with homozygous Familial Hypercholesterolemia (HoFH) who may be taking other medications to lower cholesterol. (nemours.org)
Global Markets Direct's, 'Homozygous Familial Hypercholesterolemia (HoFH) - Pipeline Review, H1 2016', provides an overview of the Homozygous Familial Hypercholesterolemia (HoFH) pipeline landscape. (clickpress.com)
The report provides comprehensive information on the therapeutics under development for Homozygous Familial Hypercholesterolemia (HoFH), complete with analysis by stage of development, drug target, mechanism of action (MoA), route of administration (RoA) and molecule type. (clickpress.com)
Additionally, the report provides an overview of key players involved in therapeutic development for Homozygous Familial Hypercholesterolemia (HoFH) and features dormant and discontinued projects. (clickpress.com)
Homozygous familial hypercholesterolemia (HoFH) is a rare form of familial hypercholesterolemia, an autosomal-dominant genetic disorder of lipid metabolism characterized by strikingly elevated levels of low-density lipoprotein cholesterol (LDL-C). (delveinsight.com)
A major difference between homozygous and heterozygous familial hypercholesterolemia is the presence of cholesterol levels. (delveinsight.com)
What is Homozygous Familial Hypercholesterolemia (HoFH)? (delveinsight.com)
Mental health disturbances were found to be common in patients with homozygous familial hypercholesterolemia (HoFH), and the mental health status of these patients was found to be associated with lifestyle behaviors, according to a study published in the Journal of Clinical Lipidology . (thecardiologyadvisor.com)
Mental status and physical activity in patients with homozygous familial hypercholesterolemia: A subgroup analysis of a nation-wide survey (A-HIT1 registry) [published online April 20, 2020]. (thecardiologyadvisor.com)
JUXTAPID is a microsomal triglyceride transfer protein inhibitor indicated as an adjunct to a low-fat diet and other lipid-lowering treatments, including LDL apheresis where available, to reduce low-density lipoprotein cholesterol (LDL-C), total cholesterol (TC), apolipoprotein B (apo B), and non-high-density lipoprotein cholesterol (non-HDL-C) in patients with homozygous familial hypercholesterolemia (HoFH) ( 1 ). (drugs.com)
Allele1
CONCLUSION: Reflux symptoms are more strongly associated with Barrett's esophagus risk among persons homozygous for the major allele of rs2687201, which lies approximately 75 kb downstream of the transcription factor gene FOXP1. (who.int)
Mutations7
With a similar approach, homozygous mutations also have been found in PDE6B in the affecteds of two other ARRP families (13,14). (molvis.org)
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)
However, it is surprising that no phenotypic effects were observed in the carrier bull, necessitating further studies to fully elucidate the effects of these novel homozygous mutations. (researchgate.net)
Homozygous SLITRK6 c.1240C>T (p.Gln414Ter) nonsense mutations are associated with high myopia, cochlear dysfunction attributed to outer hair cell disease, and progressive auditory neuropathy. (harvard.edu)
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. (ox.ac.uk)
Clinical characteristics for 30 patients with diabetes due to homozygous GCK mutations (19 unique mutations, including 16 missense) were compiled and assigned a clinical severity grade (CSG) based on birth weight and age at diagnosis. (ox.ac.uk)
Compound heterozygous1
If a child receives an abnormal recessive disease gene from both parents, the child will show the disease and will be homozygous (or compound heterozygous) for that gene. (medlineplus.gov)
Sickle cell di1
Malaria as a cause of morbidity and mortality in children with homozygous sickle cell disease on the coast of Kenya. (ox.ac.uk)
Variant7
All nine subjects were homozygous for a novel nonsense variant of SLITRK6 (c.1240C>T, p.Gln414Ter). (harvard.edu)
In seven families, we identified 13 individuals with highly overlapping phenotypes who harbor a single identical homozygous frameshift variant in EMC10. (northwestern.edu)
Results: A homozygous variant EMC10 c.287delG (Refseq NM_206538.3, p.Gly96Alafs*9) segregated with affected individuals in each family, who exhibited a phenotypic spectrum of intellectual disability (ID) and global developmental delay (GDD), variable seizures and variable dysmorphic features (elongated face, curly hair, cubitus valgus, and arachnodactyly). (northwestern.edu)
Conclusion: We propose that a homozygous loss-of-function variant in EMC10 causes a novel syndromic neurodevelopmental phenotype. (northwestern.edu)
Whole exome sequencing revealed a single pathogenic homozygous variant within the critical region. (scilifelab.se)
Separate guidelines should be created for severe and homozygous FH, defined as either the presence of LDL cholesterol levels 400 mg/dL or greater or a pathogenic gene variant in any of the FH-related genes on two different alleles. (cdc.gov)
Babies homozygous for this variant, or heterozygous for this variant and a penetrant variant, are estimated to be at ~20% risk for congenital hearing loss and ~50% risk of developing moderate or more severe PHL by age 5. (cdc.gov)
Gene4
If you're homozygous for a particular gene, you inherited two of the same alleles. (healthline.com)
Overo Lethal White Syndrome is not related to what happens to homozygous or double merle Australian Shepherds, Mini Aussies and many other breeds that carry the merle gene such as Border Collies, Koolies, Great Danes, and 'dapple' Dachshunds. (australian-shepherd-lovers.com)
Homozygous lines are such plants which have two exact copies of the same gene in sister chromosomes. (growkudos.com)
Recent work has shown that mice homozygous for Ahl are not only more sensitive to noise , but also are probably damaged in a different manner by noise than mice containing the wild-type gene. (cdc.gov)
Stallion2
He's Too Blue To Be True is a homozygous black, homozygous roan, registered TWHBEA stallion that currently stands 15H at 2 years old. (stallionsnow.com)
COLONEL SPARK OLENA is a 2018 True Blue Roan stallion, who is Homozygous for ROAN and BLACK! (stallionsnow.com)
Recurrent1
These recurrent homozygous deletions occur either over tumour suppressors or over fragile sites, regions of increased genomic instability. (ox.ac.uk)
Genomic2
Our analysis defines 96 genomic regions recurrently targeted by homozygous deletions. (ox.ac.uk)
A single homozygous 11.3 Mb genomic region on chromosome 6 was linked to the disease in this family. (scilifelab.se)
Patients4
A year-long double-blind placebo-controlled study was performed in DeltaF508 homozygous CF patients above the age of 6. (nih.gov)
In silico analysis of miR-137 transcription inhibition in homozygous (T/T) schizophrenic patients: a pilot study. (peerj.com)
Most patients with homozygous FH do not survive adulthood beyond age 30 years unless treated with unusual methods, such as liver transplantation, LDL apheresis, or ileal bypass surgery to dramatically lower their LDLc levels. (medscape.com)
L'objectif de ce travail était de décrire le profi l des manifestations cardiovasculaires chez les patients vivants avec le VIH en le comparant à celui de patients séronégatifs. (bvsalud.org)
Anther2
Segregation distortion in homozygous lines obtained via anther culture and maize doubled haploid methods in comparison to single seed descent in wheat (Triticum aestivum L. (ejbiotechnology.info)
Homozygous lines were derived from six winter wheat crosses by pollination with maize (DH-MP), anther culture (DH-AC) and single seed descent (SSD) technique. (ejbiotechnology.info)
Genotype2
A homozygous genotype is the opposite of a heterozygous genotype. (healthline.com)
He still has a 50% chance of siring A2A2 offspring when mated to A2A2 cows, he carries the desirable BB Kappa Casein genotype for increased cheese yield, and being Homozygous polled will have every calf born polled. (holtcreekjerseys.com)
Mice1
In a patient with congenital amyelinating neuropathy, we observed pathological abnormalities recapitulating the peripheral nervous system phenotype of homozygous Egr2-null mice . (bvsalud.org)
TLR41
Most participants were homozygous wildtype at the TLR4 299 and 399 loci. (cdc.gov)
Deletion2
Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy. (bvsalud.org)
This patient , born from consanguineous parents , showed no EGR2 immunoreactivity in Schwann cells and harbored a homozygous 10.7-kilobase-long deletion encompassing a myelin -specific enhancer of EGR2. (bvsalud.org)
Clinical management1
This article focuses primarily on the clinical management of homozygous FH. (elsevierpure.com)
Severe2
Tjernberg P, Castaman G, Vos HL, Bertina RM, Eikenboom JCJ: Homozygous C2362F von Willebrand factor induces intracellular retention of mutant von Willebrand factor resulting in autosomal recessive severe von Willebrand disease. (karger.com)
The diagnosis of both homozygous and heterozygous FH is based primarily on the finding of severe LDLc elevations in the absence of secondary causes of hypercholesterolemia. (medscape.com)
Black5
She is homozygous black, homozygous LP and 6 panel NN. (equinenow.com)
Has produced only homozygous pinto and homozygous black! (horseweb.com)
This listing is currently unavailable because the ad for Homozygous Pinto, Homozygous black either expired or because the Seller simply archived it. (horseweb.com)
Colonel Spark Olena - Homozygous for Roan & Black. (stallionsnow.com)
She was later found to be homozygous for the interleukin-10 (IL-10)-1082A SNP. (bmj.com)
Description1
Since it has become a commonly used description of homozygous merles many websites attempting to educate the public about lethal white merles are forced to include the words 'lethal white' on their web pages just so those looking for information by typing in 'lethal white' into their favorite search engine can find them. (australian-shepherd-lovers.com)
Single2
Addgene: Egg cell-specific promoter-controlled CRISPR/Cas9 efficiently generates homozygous mutants for multiple target genes in Arabidopsis in a single generation. (addgene.org)
Homozygous regions were searched using 250 K DNA single nucleotide polymorphism (SNP) array. (scilifelab.se)
Analysis1
Pan-cancer analysis of homozygous deletions in primary tumours uncovers rare tumour suppressors. (ox.ac.uk)
Human1
Here, we build a compendium of 2218 primary tumours across 12 human cancer types and systematically screen for homozygous deletions, aiming to identify rare tumour suppressors. (ox.ac.uk)
Lines1
Application of biotechnological tools to accelerate the attainment of homozygous lines may influence the proportion of segregated genotypes. (ejbiotechnology.info)
Rare1
Homozygous deletions are rare in cancers and often target tumour suppressor genes. (ox.ac.uk)