• In some individuals, this phenotype ameliorates with age, resulting in a clinical catch-up and normal IQ in adulthood. (nature.com)
  • The clinical phenotype of ADAMTSL4 -associated ectopia lentis was summarized and expanded. (molvis.org)
  • Conclusion We report the first case of isolated ZNF597 imprinting defect, showing phenotypic overlap with SRS despite not satisfying the clinical SRS criteria. (bmj.com)
  • Thus, phenotypic implications of sporadic mutations must be taken into consideration before using the hPSC for clinical applications. (nih.gov)
  • Other clinical findings, such as refractive error, photophobia, photodysphoria, sluggish and poorly reactive pupils, oculodigital sign, keratoconus, and cataracts can be part of the phenotypic manifestations of LCA ( Table 1 ). (aao.org)
  • The computational results simulating the effects of transmural alterations in the ventricular tissue replicate the phenotypic patterns of LV dysfunction observed in clinical practice. (frontiersin.org)
  • The different deficiency phenotypes have varying risks for clinical problems. (southtees.nhs.uk)
  • Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype. (msdmanuals.com)
  • PURPOSE OF REVIEW: The current review will discuss the pathophysiology, work-up and clinical relevance of the ocular phenotype in Williams-Beuren syndrome in detail. (bvsalud.org)
  • Phenotypic variation between siblings with MLD suggests that a number of biochemical and epigenetic factors contribute to the clinical phenotype. (medscape.com)
  • [ 7 ] Some patients with clinical MLD have normal ARSA activity but lack an activator protein that is involved in sulfatide degradation. (medscape.com)
  • Patients with multiple sclerosis are classified according to their clinical phenotype, with ~85% following a relapsing-remitting course (relapsing-remitting multiple sclerosis) characterized by recurrent, acute neurological deficits punctuating periods of latency or remission (Lublin and Reingold, 1996). (medscape.com)
  • While the genotypes causing complete androgen insensitivity syndrome are fairly consistent in phenotypic presentation, the genotype/phenotype relationships for the mutations causing partial androgen insensitivity syndrome remain unclear. (medscape.com)
  • There are currently 20 retinal genes whose mutations cause the phenotype of LCA, accounting for about 70% of the cases, while the genes underlying the remaining 30% of patients await discovery. (aao.org)
  • There are many different forms of α1 antitrypsin deficiency associated with different genetic mutations, producing proteins which can be identified by isoelectric focussing - the phenotype. (southtees.nhs.uk)
  • Better understanding of new mutations and the wide range of possible phenotypes led to the development of a new nomenclature proposal, based on the gene and inheritance pattern. (medscape.com)
  • PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. (lu.se)
  • Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. (lu.se)
  • Clinicians should be aware of the varied ocular phenotype and the risks of retinal detachment, ocular hypertension, and glaucoma in the diagnosis and management of this condition. (molvis.org)
  • We aimed to quantitatively assess the external genital phenotype in relation to AR genotype and sex of rearing and identify criteria that differentiate mutation positive (ARmt) from mutation negative (ARwt) PAIS patients. (nih.gov)
  • there is a wide range of phenotypic variation. (medscape.com)
  • In 1927, Muller showed that X-ray treatment could increase the mutation rate in a Drosophila population by 15,000% [ 10 ], and a year later, Stadler observed a strong phenotypic variation in barley seedlings and sterility in maize tassels after exposure to X-rays and radium [ 11 , 12 ]. (hindawi.com)
  • The researchers warn that given that phenotypic variation is directly exposed to natural selection, even small differences that are not statistically significant can have evolutionary consequences for populations and species. (biosafety-info.net)
  • This thesis considers normal person to person variation in facial features, as opposed to aberrant variation usually classified as dysmorphology. (bl.uk)
  • One genome-wide significance locus associated with daily meal times was located in a 122.25 Mb region on chromosome 2, which was within the intron of gene ubiquitin-conjugating enzyme E2 E2 ( UBE2E2) , and could explain 2.64% of the phenotypic variation. (biomedcentral.com)
  • This locus was also significantly associated with meal feed intake, and explained 2.72% of this phenotypic variation. (biomedcentral.com)
  • This new pathomechanistic model may ultimately help in predicting phenotype severity as well as eligibility for potential precision medicine approaches in GRIN2A -related disorders. (ed.ac.uk)
  • The level of intellectual disability can be affected by severity of the phenotypic expression. (herts.ac.uk)
  • Overexpression of ZNF597 may contribute to some of the phenotypes associated with maternal uniparental disomy of chromosome 16 (UPD(16)mat), and some patients with UPD(16)mat presenting with Silver-Russell syndrome (SRS) phenotype have recently been reported. (bmj.com)
  • The phenotypic manifestations of multilocus imprinting defects (MLIDs) remain unclear. (lu.se)
  • Most have phenotypes with multiple defects and variable penetrance and expression. (nih.gov)
  • My work focuses on characterizing phenotypic defects in mutant embryos. (ursinus.edu)
  • During Genetics Lab my Sophomore year, one of our first experiments was using C. elegans to characterize phenotypic defects and determine the mutation. (ursinus.edu)
  • Furthermore, Exogenous application of IAA failed to rescue the late-bolting and -flowering phenotype of lsarf3 mutants. (frontiersin.org)
  • Notable exceptions are the tilted and tilted head mouse mutants, having only one identified phenotypic defect, the absence of otoconia, and 100% penetrance. (nih.gov)
  • However, the function of this protein has remained unclear because pilU mutants exhibit inconsistent phenotypes among type IV pilus systems and because it is relatively understudied compared to PilT. (biorxiv.org)
  • The resulting blockade of RNA splicing or translation allows loss-of-function phenotypes to be determined within days, contrasting the months that can be required to obtain homozygous mutants. (cdc.gov)
  • This results in the phenotype of prenatal undervirilization of external genitalia, absence of pubic and axillary hair, lack of acne, and absence of voice changes at puberty. (medscape.com)
  • Using a rat model of prenatal low protein (LP, 8% protein) diet followed by a postnatal high fat energy diet (HE, 45% fat) or low fat normal energy diet (NE, 10% fat) for 12 weeks, we investigated the effect of these diets on adiposity, programming of the offspring ATM phenotype, and the associated inflammatory response. (usda.gov)
  • Knockdown of TP53, which is a gene encompassed by the deleted region, in wild-type cells mimicked the chr17p13.1 deletion phenotype. (nih.gov)
  • Here we report our molecular and phenotypic analysis of the 300kb deletion (delta), the structure of which was confirmed by molecular analysis and DNA FISH. (geneimprint.com)
  • No visible phenotype was observed upon paternal or maternal transmission of the deletion, which encompasses the Th gene. (geneimprint.com)
  • thus, deletion of the X chromosome's short arm seems to play an important role in producing the typical phenotype. (msdmanuals.com)
  • Through international collaboration, we assembled the phenotypic and molecular information for 34 individuals (23 unpublished individuals). (nature.com)
  • Computational approaches for variant prioritization include machine learning methods utilizing a large number of features, including molecular information, interaction networks, or phenotypes. (plos.org)
  • Although the existence of additional anomalies of the nervous system or other organ systems is difficult to exclude, the existing animal models are a valuable resource for understanding molecular bases for normal inner ear development. (nih.gov)
  • These data demonstrate that MAP3K4-dependent signalling events are required for normal expression of Sry during testis development, and create a novel entry point into the molecular and cellular mechanisms underlying sex determination in mice and disorders of sexual development in humans. (plos.org)
  • In this study, we summarize the ocular and systemic phenotypic spectrum of this condition. (molvis.org)
  • The phenotypic spectrum across 91 individuals sourced from literature and four individuals from this case study series was highly variable. (molvis.org)
  • In this study, we describe a series of four previously unreported individuals from three pedigrees and summarize the phenotypic spectrum of ADAMTSL4 -associated ectopia lentis. (molvis.org)
  • The phenotypic spectrum, however, ranges from in utero onset to adequate renal function at old age. (jci.org)
  • The phenotypic spectrum ranged from normal or near-normal development with mild epilepsy and speech delay/apraxia to severe developmental and epileptic encephalopathy, often within the epilepsy-aphasia spectrum. (ed.ac.uk)
  • it did not uncover evidence of (etiologically pertinent) heterogeneity of the BDL phenotype. (karger.com)
  • Variations in the degree of mosaicism between tissues explained the phenotype. (lu.se)
  • Variations in phenotypic characteristics - skin complexion, hair texture, facial features, and stature - play a central role in racial stratification processes throughout the world. (encyclopedia.com)
  • Some of these phenotypic variations lead to lower levels of α1-antitrypsin, some lead to normal levels of less active functional variants. (southtees.nhs.uk)
  • The experiments are done in both wildtype (normal) embryos and pam-1 mutant embryos. (ursinus.edu)
  • For some genes the phenotypic consequences of a decrease in gene dosage are noticeable but not catastrophic. (wikipedia.org)
  • Structural and social-Psychological consequences of phenotypic hierarchies are still evident to varying degrees in communities of color in the Americas and in other parts of the world. (encyclopedia.com)
  • A recent article (Item 1) comments on a meta-analysis (Item 2) that profiled the phenotypic consequences of plant breeding and genetic engineering (GE), and compared modified cultivars with wild relatives in five crops of global economic and cultural importance: rice, maize, canola, sunflower, and pumpkin. (biosafety-info.net)
  • The study concluded that (1) genetic modification (either by selective breeding or GE) can be traced phenotypically when comparing wild relatives with their domesticated relatives, and (2) the existence and the magnitude of the phenotypic differences between a domesticated GE crop and a domesticated non-GE variety of the same crop suggest consequences of genetic modification beyond the target trait(s). (biosafety-info.net)
  • We found that pathogenic missense variants in transmembrane and linker domains (mis TMD+Linker ) were associated with severe developmental phenotypes, whereas missense variants within amino terminal or ligand-binding domains (mis ATD+LBD ) and null variants led to less severe developmental phenotypes, which we confirmed in a discovery (P = 10 −6 ) as well as validation cohort ( P = 0.0003). (ed.ac.uk)
  • In a number of syndromes, such as Cornelia de Lange, milder phenotypic expression is associated with less severe intellectual disability. (herts.ac.uk)
  • for example, females with fragile-X syndrome have milder phenotypic expression and less severe intellectual disability. (herts.ac.uk)
  • There are more than 80 unique alleles that have been described for the CYP2D6 enzyme, 5 and the different allele combinations yield phenotypic diversity in the general population. (ahdbonline.com)
  • A phenotypic female with a low level of factor VIII or factor IX may be classified into one of the following categories of causality: homozygosity (two identical haemophilia alleles), compound heterozygosity (two different haemophilia alleles), hemizygosity (one haemophilia allele and no normal allele), heterozygosity (one haemophilia allele and one normal allele), genetic causes other than haemophilia and non-genetic causes. (cdc.gov)
  • Interestingly, there are phenotypic-genotypic correlations characteristic of some fundus changes. (aao.org)
  • Diagnostic findings such as non-recordable electroretinograms (ERGs) and specific optical coherence tomography (OCT) or fundus autofluorescence (FAF) findings add to the phenotypic-genotypic correlations ( Table 1 ). (aao.org)
  • This imbalance in gene dosage alters the amount of a particular protein relative to all other proteins, and this alternation in the relative amounts of protein can have a variety of phenotypic effects. (wikipedia.org)
  • In the maternal normal protein group, both M1 and M2 cell numbers increased when fed a post-weaning high-fat diet. (usda.gov)
  • The ratio of M1 and M2 did not change with maternal and post weaning diets while M1b cell numbers increased in maternal normal protein and post-weaning high-fat diet group. (usda.gov)
  • These results indicate that forced Akt1 signaling causes hypertrophy of cultured airway myocytes without inducing further contractile phenotypic maturation, possibly because of opposing effects on contractile protein gene transcription and translation, and suggest that natural activation of Akt1 plays a similar role in asthmatic ASM. (nih.gov)
  • There are many phenotypes which lead to low serum levels of the protein. (southtees.nhs.uk)
  • Neuronal loss of the serine-threonine protein kinase Tao , a regulator of the Hippo signaling pathway, results in supernumerary boutons, each of which contain a normal number of active zones. (sdbonline.org)
  • The protein is also required for normal Ras activation in many of these pathways. (lu.se)
  • Routine genetic analysis for CHI was normal in the blood and resected pancreatic tissue. (lu.se)
  • The phenotype of a crop is defined by a set of characteristics expressed by the crop's genetic code. (biosafety-info.net)
  • Behavioural phenotypes are syndromes with a chromosomal or genetic aetiology, comprising both physiological and behaviour manifestations, including a distinctive social, linguistic, cognitive and motor profile. (herts.ac.uk)
  • Women and girls reported as 'haemophilic females' may have complex genetic causes for their haemophilia phenotype. (cdc.gov)
  • Recognition of a single-gene disorder as causal for a patient's 'multiple sclerosis-like' phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. (medscape.com)
  • However, it is not known whether maternal undernutrition increases ATM phenotypic expression in F1 offspring. (usda.gov)
  • Diminishing the dosage of most genes produces no obvious change in phenotype. (wikipedia.org)
  • We have developed a novel algorithm (PVP) which augments existing strategies by using the similarity of the patients phenotype to known phenotype-genotype data in human and model organism databases to further rank potential candidate genes. (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)
  • By knocking out the genes, I can compare normal development to defections to understand specific gene function. (ursinus.edu)
  • Most tests of the phenotype only identify affected individuals, and not carriers of disease liability genes. (vin.com)
  • In summary, disease-causing CUX1 variants result in a non-syndromic phenotype of developmental delay and intellectual disability. (nature.com)
  • Here, we demonstrate the PhenomeNET Variant Predictor (PVP) system that exploits semantic technologies and automated reasoning over genotype-phenotype relations to filter and prioritize variants in whole exome and whole genome sequencing datasets. (plos.org)
  • We address the problem of how to distinguish which of the many thousands of DNA sequence variants carried by an individual with a rare disease is responsible for the disease phenotypes. (plos.org)
  • Pathogenic sequence or copy number variants affecting his phenotypes were not identified, indicating that primary epimutation occurred postzygotically. (bmj.com)
  • Altogether, this study highlights the role that in trans variants at the disease locus can play in phenotypic modification of dominant diseases and provides a truly orthologous PKD1 model, optimal for therapeutic testing. (jci.org)
  • To test this hypothesis, we evaluated whether Akt activation occurs naturally within airway myocytes in situ, whether Akt1 activation is sufficient to cause hypertrophy of normal airway myocytes, and whether such hypertrophy is accompanied by excessive accumulation of contractile apparatus proteins (contractile phenotype maturation). (nih.gov)
  • Cux1 heterozygous ( Cux1 +/ − ) animals are fertile and display no obvious phenotypes, but an in-depth analysis of the consequence of heterozygosis has never been pursued [ 13 ]. (nature.com)
  • As a consequence of racial intermixture during the colonial era, phenotype in the contemporary Mexican-origin population ranges on a continuum from those who appear white to those who have dark skin, indigenous facial features, and shorter height than average. (encyclopedia.com)
  • Partial androgen insensitivity syndrome (PAIS) is a heterogeneous group of intersex disorders characterized by a typical perineoscrotal hypospadias/micropenis phenotype, and a normal androgen-producing testis. (nih.gov)
  • Androgen insensitivity syndrome (AIS), formerly known as testicular feminization, is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in chromosomally male individuals. (medscape.com)
  • Individuals with complete androgen insensitivity syndrome have female external genitalia with normal labia, clitoris, and vaginal introitus. (medscape.com)
  • Loss of AR function means that, despite normal levels of androgen synthesis, the typical postreceptor events that mediate the effects of hormones on tissues do not occur. (medscape.com)
  • This article is a brief introduction to the study of CMT and correlates the most common different genotypes and phenotypes. (medscape.com)
  • When clinically important phenotypes are detected, (family studies) genotyping (DNA studies) might be required for patients with severe deficiencies and their relatives. (southtees.nhs.uk)
  • Gingival fragments were obtained from 13 patients (8 women and 5 men, from 22 to 74 years of age), with 4 fragments from clinically normal gingiva (NG), 5 from biopsy of periodontal pockets with CP, and 4 from DGH induced by diphenylhydantoin. (bvsalud.org)
  • Miscegenation resulted in a continuum of phenotypic types in these societies, and this ideological framework sometimes supported more a privileged treatment of mixed-raced subordinates. (encyclopedia.com)
  • Compared to wild-type cells with two normal copies of the chr17p13.1 region, the mutant cells displayed a selective advantage when exposed to stressful conditions, and retained a higher percentage of pluripotent cells after two weeks of in vitro differentiation. (nih.gov)
  • In theory, genetically engineered (GE) plants will show phenotypic changes only linked to the traits that scientists added to the genetically modified organism (GMO). (biosafety-info.net)
  • Screening for cataracts, ausculting for heart murmurs, hip and elbow radiographs, thyroid profiles, urinalysis for crystals or metabolites, skin biopsy for sebaceous adenitis, and observations on behavioral traits are all tests of the phenotype. (vin.com)
  • These cell lines include a lung adenocarcinoma (A549), a non small cell lung carcinoma cell line (DLKP), normal bronchial epithelial cell line (NHBE), a breast adenocarcinoma (MCF-7) and human mammary epithelial cells (HMEC). (dcu.ie)
  • In addition, 14 of the patients were the normal mammary gland and are also important in the development premenopausal (5 ER and 9 ER ) and 33 were postmenopausal (18 ER and progression of breast carcinoma. (lu.se)
  • The phenotypes I analyze occur at different stages of development. (ursinus.edu)
  • DNA tests for specific diseases remain the "gold standard" in determining an animal's genotype, but in the absence of available DNA tests, phenotypic evaluations are the best alternative. (ofa.org)
  • LESSONS: The genotype-phenotype of Williams-Beuren syndrome is complicated due to the phenotypic diversity. (bvsalud.org)
  • Surprisingly, coexpression of this mutant subunit with CNGB3 rescues the channel phenotype, except for the Ca 2+ interaction. (jneurosci.org)
  • Occasionally, affected girls have one normal X and one X that has formed a ring chromosome. (msdmanuals.com)
  • Some affected girls have one normal X and one long-arm isochromosome formed by the loss of short arms and development of a chromosome consisting of two long arms of the X chromosome. (msdmanuals.com)
  • This phenotype was rescued by providing exogenous L-DOPA during gestation, to bypass the requirement for the deleted tyrosine hydroxylase gene. (geneimprint.com)
  • Patients with low α1 antitrypsin will be phenotyped (by isoelectric focussing) to detect homozygous (2 identical alleles) or heterozygous (2 different alleles) deficiency states. (southtees.nhs.uk)
  • In all cases where deficiency phenotypes are identified, the result will be given with appropriate interpretive comments. (southtees.nhs.uk)
  • He is the sixth and youngest child to se deficiency (MIM 231670) is a recessive- first-cousin phenotypically normal parents ly inherited neurometabolic disorder asso- and has 5 healthy sisters. (who.int)
  • Owing to the range of intellectual disability exhibited across behavioural phenotypes, it is important to assess cognitive functioning at an early stage, particularly when the level of intellectual disability may be borderline, as in the case of Sotos and Turner syndromes, so that educational intervention can be tailored to meet the individual's needs and maximize the individual's potential (Barnard et al. (herts.ac.uk)
  • Phenotypic expression is widely variable and there are no agreed guidelines to determine the sex of rearing in individuals with borderline masculinization. (nih.gov)
  • Overall, our results indicate that increasing the levels of MATR3 in muscle can cause pathologic changes associated with myopathy, with MATR3 F115C expression causing overt muscle atrophy and a profound motor phenotype. (biomedcentral.com)
  • The meta-analysis did find significant and unintended phenotypic effects. (biosafety-info.net)
  • Our phenotypic analysis in vitro includes quantifying metabolic flux using multiple flux tracers (1,2-13C2-glucose and U13C-palmitate). (bmj.com)
  • The analysis and measurements made to establish phenotypic classification of the face have enabled preliminary genotype-phenotype association studies to be performed. (bl.uk)
  • In either case, affected individuals have normal testes with normal production of testosterone and normal conversion to dihydrotestosterone (DHT). (medscape.com)
  • Because the testes produce normal amounts of müllerian-inhibiting factor (MIF), also known as müllerian-inhibiting substance (MIS) or anti-müllerian hormone/factor (AMH/AMF), affected individuals do not have fallopian tubes, a uterus, or a proximal (upper) vagina. (medscape.com)
  • The majority of subjects analysed were normal individuals but a small set of patients (n=14) with Medullary Sponge Kidney (MSK) were investigated in order to explore face scanning as an objective diagnostic tool. (bl.uk)
  • We performed a comprehensive assessment of phenotypes with a standardized questionnaire in 92 previously unreported individuals with GRIN2A -related disorders. (ed.ac.uk)
  • They can identify affected, carrier, and normal individuals. (vin.com)
  • Yet, in spite of its " alleged " tolerance for racial differences and a fluid racial classification system, phenotypic appearance is an important determinant of Brazilian life chances. (encyclopedia.com)
  • In the late 1960s, neurophysiologic testing allowed the classification of CMT into 2 groups, one with slow nerve conduction velocities and histologic features of a hypertrophic demyelinating neuropathy (hereditary motor and sensory neuropathy type 1 or CMT1) and another with relatively normal velocities and axonal and neuronal degeneration (hereditary motor and sensory neuropathy type 2 or CMT2). (medscape.com)
  • Documenting phenotype, surgical procedures and outcome criteria are necessary to enable decision-making on the sex of rearing in patients with a lower range EMS. (nih.gov)
  • Background We are interested in mapping and understanding phenotypes that precede the development of overt signs of Huntington's disease, in hopes of identifying pathways with the potential to be disease-modifying. (bmj.com)