• mutations
  • Following the first isolation of nuclear receptor (NR) genes, genetic disorders caused by NR gene mutations were initially discovered by a candidate gene approach based on their known roles in endocrine pathways and physiologic processes. (jci.org)
  • To date, defects in 20 of 48 human NR genes have been associated with human disorders, with different mutations mediating phenotypes of varying severity or several distinct conditions being associated with different changes in the same gene. (jci.org)
  • Here we review germline changes in human NR genes associated with "monogenic" conditions, including a discussion of the structural basis of mutations that cause distinctive changes in NR function and the molecular mechanisms mediating pathogenesis. (jci.org)
  • Mutations affecting the androgen receptor (AR) gene may cause either complete or partial androgen insensitivity syndrome. (wikipedia.org)
  • Mutations in both the AMH gene and the type II AMH receptor have been shown to cause the persistence of Müllerian derivatives in males that are otherwise normally masculinized. (wikipedia.org)
  • Genetic testing on various persons has confirmed that mutations of the POU3F4 gene cause X-linked non-syndromic deafness (DFN-3). (wikipedia.org)
  • Genetic factors including aneuploidies and single-gene mutations are also contributed to the male infertility. (wikipedia.org)
  • A large percentage of human male infertility is estimated to be caused by mutations in genes involved in primary or secondary spermatogenesis and sperm quality and function. (wikipedia.org)
  • However, it is possible that these mutations individually have no major effect and only contribute to the male infertility by collaboration with other contributors such as environmental factors and other genomics variants. (wikipedia.org)
  • In humans, NR5A1 mutations were first described in patients with 46, XY karyotype and disorders of sex development (DSD), Mullerian structures and primary adrenal failure (MIM 612965). (wikipedia.org)
  • These findings substantially increase the number of NR5A1 mutations reported in humans and show that mutations in NR5A1 can be found in patients with a wide range of phenotypic features, ranging from 46,XY sex reversal with primary adrenal failure to male infertility. (wikipedia.org)
  • 2010) conducted a study on the nonobstructive infertile men (a non-Caucasian mixed ancestry n = 315), which resulted in the report of all missense mutations in the NR5A1 gene with 4% frequency. (wikipedia.org)
  • Functional studies of the missense mutations revealed impaired transcriptional activation of NR5A1-responsive target genes. (wikipedia.org)
  • TDF functions by activating the SOX9 gene on chromosome 17, so mutations of the SOX9 gene can cause humans with a Y chromosome to develop as females. (wikipedia.org)
  • Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. (wikipedia.org)
  • organs
  • In some cases, external sex organs associated with pseudohermaphroditism look intermediate between a typical clitoris and penis. (wikipedia.org)
  • In other cases, the external sex organs have an appearance that would be expected to be seen with the "opposite" gonadal tissue. (wikipedia.org)
  • The external and visible organs, in males and females, are the primary sex organs known as the genitals or genitalia. (wikipedia.org)
  • The internal organs are known as the secondary sex organs[not in citation given] and are sometimes referred to as the internal genitalia. (wikipedia.org)
  • The flowers of flowering plants produce pollen and egg cells, but the sex organs themselves are inside the gametophytes within the pollen and the ovule. (wikipedia.org)
  • The other, hidden sex organs are referred to as the secondary sex organs or internal genitalia. (wikipedia.org)
  • Gonads are the true sex organs, generating reproductive gametes containing inheritable DNA. (wikipedia.org)
  • In mammals, sex organs include: In typical prenatal development, sexual organs originate from a common anlage anatomy during early gestation and differentiate into male or female variations. (wikipedia.org)
  • Some sources state that it continues until the twelfth week, while others state that it is clearly evident by the thirteenth week and that the sex organs are fully developed by the sixteenth week. (wikipedia.org)
  • secondary
  • Pseudohermaphroditism, or pseudo-hermaphroditism, is an old clinical term for an organism is born with primary sex characteristics of one sex but develops the secondary sex characteristics that are different from what would be expected on the basis of the gonadal tissue (ovary or testis). (wikipedia.org)
  • Promotes development of secondary sex characteristics. (medscape.com)
  • steroids
  • and the histological structure for OT neurons is sexually dimorphic, suggesting that sex steroids play a role in early morphogenesis of this system ( de Vries, 2008 ). (frontiersin.org)
  • The liver produces plasma sex hormone-binding globulin (SHBG), which transports sex steroids and regulates their access to tissues. (jci.org)
  • autosomal
  • By assuming that PTC tasting is determined by a dominant allele at a single autosomal gene, and that the class is an unbiased sample from a population in Hardy-Weinberg equilibrium, students then estimate allele and genotype frequencies within the larger population. (wikipedia.org)
  • disorders
  • Subsequently, the identification of disorders has been informed by phenotypes associated with gene disruption in animal models or by genetic linkage studies. (jci.org)
  • The underlying causative factors in the male infertility can be attributed to environmental toxins, systemic disorders such as, hypothalamic-pituitary disease, testicular cancers and germ-cell aplasia. (wikipedia.org)
  • gonadal
  • In toto, there is substantial evidence indicating that at least some of oxytocin's effects are correlated with an individual's sex, in part via the influence of gonadal hormones. (frontiersin.org)
  • differences
  • We investigated sex differences in CAD by diabetes status among healthy individuals with different underlying risks of heart disease. (diabetesjournals.org)
  • These sex differences may be due to a greater adverse effect of diabetes on cardiovascular risk factors in women ( 10 ). (diabetesjournals.org)
  • Conversely, another meta-analysis found no significant sex differences in the relative risk associated with diabetes for CAD mortality after adjusting for traditional cardiovascular risk factors, but instead a greater absolute CAD mortality rate in men with diabetes at every age except the very old ( 11 ). (diabetesjournals.org)
  • Likely, different population characteristics account for the sex differences observed in these various studies. (diabetesjournals.org)
  • However, previous studies have not focused specifically on sex differences in CAD risk among younger and middle-aged persons with diabetes. (diabetesjournals.org)
  • Twins are a valuable source for observation because they allow the study of environmental influence and varying genetic makeup: "identical" or monozygotic (MZ) twins share nearly 100% of their genes, which means that most differences between the twins (such as height, susceptibility to boredom, intelligence, depression, etc.) are due to experiences that one twin has but not the other twin. (wikipedia.org)
  • Modern twin studies have shown that almost all traits are in part influenced by genetic differences, with some characteristics showing a stronger influence (e.g. height), others an intermediate level (e.g. personality traits) and some more complex heritabilities, with evidence for different genes affecting different aspects of the trait - as in the case of autism. (wikipedia.org)
  • females
  • Males and females of different strains have been found to produce differing sex pheromones. (wikipedia.org)
  • AMH has been shown to regulate production of sex hormones, and changing AMH levels (rising in females, falling in males) may be involved in the onset of puberty in both sexes. (wikipedia.org)
  • Females typically have two of the same kind of sex chromosome (XX), and are called the homogametic sex. (wikipedia.org)
  • Birds and many insects have a similar system of sex determination (ZW sex-determination system), in which it is the females that are heterogametic (ZW), while males are homogametic (ZZ). (wikipedia.org)
  • clitoris
  • Extensive sociological, sexological and medical debate have focused on the clitoris, primarily concerning anatomical accuracy, orgasmic factors and their physiological explanation for the G-spot, and whether the clitoris is vestigial, an adaptation, or serves a reproductive function. (wikipedia.org)
  • receptors
  • AMH acts with receptors, AMH-RI and AMH-RII, upon which, after a series of conformational changes and phosphorylation steps, gene expression is regulated in the cell. (wikipedia.org)
  • person's
  • Some of these factors, like biological sex or genes inherited from a person's family, cannot be changed, but many others can. (clinicaltrials.gov)
  • Importantly, research suggests that a variety of individual factors may influence a person's response to OT. (frontiersin.org)
  • Aside from a wide range of drug-specific factors (discussed in MacDonald and Feifel in this special edition), several individual factors may influence a person's response to oxytocin. (frontiersin.org)
  • environmental factors
  • In a study of 1480 Swedish twin pairs, 7-9 years old, we examined the importance of genetic and environmental factors in asthma, hay fever, eczema, and urticaria. (ehesp.fr)
  • The length of the pupal stage is determined by environmental factors such as temperature, number of hours of light, and larval nutrition, in addition to genetics. (wikipedia.org)
  • While this interpretation is broadly consistent with numerous studies of this trait, it is worth noting that other genes, sex, age and environmental factors influence sensitivity to PTC. (wikipedia.org)
  • twins
  • Genes, environments, and sex : factors of importance in atopic diseases in 7-9-year-old Swedish twins. (ehesp.fr)
  • Investigation of unlike-sex twins showed that boys had a higher cumulative incidence of asthma and hay fever than girls, whereas girls had a higher incidence of eczema. (ehesp.fr)
  • Fraternal" or dizygotic (DZ) twins share only about 50% of their genes, the same as any other sibling. (wikipedia.org)
  • If identical twins are considerably more similar than fraternal twins (which is found for most traits), this implicates that genes play an important role in these traits. (wikipedia.org)
  • More recent study is from Sir Francis Galton's pioneering use of twins to study the role of genes and environment on human development and behavior. (wikipedia.org)
  • This factor was still not understood when the first study using psychological tests was conducted by Edward Thorndike (1905) using fifty pairs of twins. (wikipedia.org)
  • This mistake was repeated by Ronald Fisher (1919), who argued The preponderance of twins of like sex, does indeed become a new problem, because it has been formerly believed to be due to the proportion of identical twins. (wikipedia.org)
  • So far as I am aware, however, no attempt has been made to show that twins are sufficiently alike to be regarded as identical really exist in sufficient numbers to explain the proportion of twins of like sex. (wikipedia.org)
  • organ
  • A sex organ (also called a reproductive organ, primary sex organ or primary sexual characteristic) is any anatomical part of the body in a complex organism that is involved in sexual reproduction and together constitute the reproductive system. (wikipedia.org)
  • genetic
  • Various atopic manifestations among adults have been shown to be influenced mainly by genetic factors. (ehesp.fr)
  • Thus, it may be concluded that although genetic factors are of major importance in atopic manifestation in children, both environmental and sex-related factors play a role. (ehesp.fr)
  • After the discovery of the testis-determining gene SRY, many scientists shifted to the theory that the genetic mechanism that causes a fetus to develop into a male form was initiated by the SRY gene, which was thought to be responsible for the production of testosterone and its overall effects on body and brain development. (wikipedia.org)
  • somatic
  • We will not cover the role of somatic NR variations or fusion genes in cancer, nor associations found in GWAS. (jci.org)
  • found
  • The XY system contrasts in several ways with the ZW sex-determination system found in birds, some insects, many reptiles, and various other animals, in which the heterogametic sex is female. (wikipedia.org)
  • A temperature-dependent sex determination system is found in some reptiles. (wikipedia.org)
  • The FTO gene expression was also found to be significantly upregulated in the hypothalamus of rats after food deprivation and strongly negatively correlated with the expression of orexigenic galanin-like peptide which is involved in the stimulation of food intake. (wikipedia.org)
  • alleles
  • These associations between short AR CAG alleles and prostate cancer may be a consequence of enhanced transactivation function (7 , 8) or increased mRNA levels (9) observed in in vitro experiments using AR genes with fewer CAG repeats. (aacrjournals.org)
  • We set out to determine whether prostate cancer was linked to the AR gene and whether we could measure an effect of short AR CAG alleles on the occurrence, age of diagnosis, and/or histological grade of prostate cancer in our families. (aacrjournals.org)
  • Also, there are several alleles segregating at the major gene determining the taste of PTC, particularly in African populations, and the common "taster" allele is incompletely dominant (homozygotes for this allele are more sensitive to PTC than are heterozygotes). (wikipedia.org)
  • reproductive
  • To analyze this facet of the reproductive function, the 5′ regulatory sequences of the gene encoding the GnRHR have been isolated and characterized through in vitro and in vivo approaches. (frontiersin.org)
  • human
  • To study the contribution of USF1 on AGT gene expression, mice carrying a (−20C) human AGT (hAGT) transgene were bred with mice harboring a USF1 gene trap allele designed to knock down USF1 expression. (ahajournals.org)
  • Each of these factors will be important to monitor as we strive to develop a richer understanding of OT's role in human development, brain-based disease, and the potential for individualized, OT-targeted treatments. (frontiersin.org)
  • Prediction of the coding sequences of unidentified human genes. (wikipedia.org)
  • Other genes that are commonly thought to be associated with Lupus are those in the Human leukocyte antigen (HLA) family, which are largely related to healthy functioning of the immune system. (wikipedia.org)
  • male
  • A type of internal male pseudohermaphroditism is Persistent Müllerian duct syndrome, which is developed through synthesis of Müllerian-inhibiting factor defects. (wikipedia.org)
  • With regard to gender, a woman may also be a person whose sex assignment does not align with their gender identity, or those who have sexual characteristics that do not fit typical notions of male or female (intersex). (wikipedia.org)
  • homolog
  • It has been suggested that FAM40A is a homolog to the yeast gene FAR11, which is involved in the recovery from cell cycle arrest. (wikipedia.org)
  • female
  • The decrease in endogenous AGT expression was insufficient to alter systolic blood pressure at baseline but caused reduced systolic blood pressure in female USF1 gene trap mice fed a high-fat diet. (ahajournals.org)
  • Effects of female sex hormones on atrial natriuretic factor g. (mysciencework.com)
  • To clarify the effects of female sex hormones on ANF gene expression, emasculated and intact female rats were subcutaneously injected with estradiol (E2), progesterone (P) and olive oil solvent (O) respectively, once a day for 7 days. (mysciencework.com)
  • This experiment suggested that female sex hormone may have dual effects in body fluid balance. (mysciencework.com)
  • The symbol for the planet and goddess Venus or Aphrodite in Greek is the sign also used in biology for the female sex. (wikipedia.org)
  • Female" is the default sex, due to the absence of the Y chromosome. (wikipedia.org)