Sox9 gene on chromosome 17. Medical search. Frequent questions

Vintiner et al reported a balanced translocation t(5;17)(q15;q23) in all affected individuals of a single family during screening for Stickler syndrome. (bmj.com)

The Next Pandemic Format: Panel 22 Jul 2023, Saturday 16:00 - 17:15, York 4 (RBC Convention Centre Winnipeg) We (humanity) handled that one (Covid 19) well. (allandyenshapiro.com)

Sex differentiation related genes such as SOX9 , FGF9 , DAX1 , WT1 , RSPO1 , and SOX10 , which are located on either autosomes or the X chromosome, may have a role in gonad development and function. (e-kjgm.org)
We were able to identify two predominant clonal NP subtypes based on their morphological characteristics and their ability to induce SOX9 and COL2A1 under conventional differentiation conditions. (biomedcentral.com)
Second, networks of genes and hormones regulate the advancement of sex determination and gonad differentiation, known as the gonadal sex phase. (lidsen.com)
The early stages of human differentiation appear to be quite similar to the same biological processes in other mammals and the interaction of genes, hormones and body structures is fairly well understood. (en-academic.com)
A gene in the sex-determining region of the short arm of the Y, now referred to as SRY , has been found to direct production of a protein which binds to DNA, inducing differentiation of cells derived from the genital ridges into testes. (en-academic.com)
Investigation of other cases of human sex reversal ( XX males , XY females ) has led to discovery of other genes crucial to testicular differentiation on autosomes (e.g. (en-academic.com)
The SRY-box 4 (SOX4) gene, which is located on chromosome 6p22.3, encodes a 47-kDa protein that is a member of the sex-determining region Y-related high-mobility group-box transcription factor family and has functions in embryonic development and cell differentiation ( 3 , 4 ). (spandidos-publications.com)
This finding further highlights the importance of DMRT1 gene in sex determination and differentiation in males. (biomedcentral.com)

TDF functions by activating the SOX9 gene on chromosome 17, so mutations of the SOX9 gene can cause humans with an ordinary Y chromosome to develop as females. (wikipedia.org)
Mutations in or near the SOX9 gene cause campomelic dysplasia. (medlineplus.gov)
Most cases of campomelic dysplasia are caused by mutations within the SOX9 gene. (medlineplus.gov)
These mutations prevent the production of the SOX9 protein or result in a protein with impaired function. (medlineplus.gov)
these cases tend to be milder than those caused by mutations within the SOX9 gene. (medlineplus.gov)
Our study identified novel recurrent mutations at diagnosis in the BCORL1 gene in 9% of the patients. (bvsalud.org)
Tumor suppressor gene (PHF6, TP53, and WT1) mutations were found to be associated with induction failure and shorter event-free survival, suggesting important roles of these alterations in resistance to therapy and disease progression. (bvsalud.org)
Comparison of the mutational landscape at diagnosis and relapse revealed an enrichment of mutations in tumor suppressor genes (16.2% versus 44.4%) and transcription factors (35.1% versus 55.6%) at relapse. (bvsalud.org)
Autosomal dominant disorders like Huntington's disease or Marfan syndrome result from mutations in a single copy of an autosomal gene. (biologyonline.com)
Specific gene mutations and chromosomal anomalies including translocations, deletions, and duplications have also been documented in patients with syndromic, non-syndromic, and isolated PRS. (biomedcentral.com)
Mutations in this gene are responsible for sex reversal in approximately 10-15% of 46,XY pure gonadal dysgenesis (46,XY DSD) cases. (biomedcentral.com)
Mutations in the SRY gene are known to be involved in 46,XY sex reversal and are found in approximately 15% of 46,XY gonadal dysgenesis cases [ 10 ]. (biomedcentral.com)

Karyograms and staining techniques can only detect large-scale disruptions to chromosomes-chromosomal aberrations smaller than a few million base pairs generally cannot be seen on a karyogram. (wikipedia.org)
The complex marker chromosome, der(14)t(14;16)(q11.2;p13.13), was initially identified by routine chromosomal analysis and subsequently characterized by array-comparative genomic hybridization (array CGH) and confirmed by fluorescence in situ hybridization (FISH). (biomedcentral.com)
The sSMC was due to an unbalanced translocation between part of the long arm of chromosome 14 (14q11.2) and the terminal region of the short arm of chromosome 16 (16pter-p13.13), which led to duplications of these two chromosomal regions. (biomedcentral.com)
Changes in the structure or quantity of chromosomes , which are strands of condensed genetic material, are known as chromosomal aberrations or abnormalities. (schleiden-eifel.de)
In an organism, any visible abnormality in chromosome number or structure from the diploid set is known as chromosomal aberration . (schleiden-eifel.de)
Because even small segments of chromosomes can span many genes, chromosomal disorders are characteristically dramatic and often fatal. (schleiden-eifel.de)
DSD patients with specific Y-chromosomal material in their karyotype, the GonadoBlastoma on the Y-chromosome (GBY) region, have an increased risk of developing type II germ cell tumors/cancer (GCC), most likely related to TSPY. (biomedcentral.com)

The regulation of the SOX9 gene is sometimes disturbed by a rearrangement of genes on chromosome 17 (translocation). (orthopedicshealth.com)
Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome. (biobioseminars.com)
Such changes may result in quantitative alteration of genes or rearrangement of genes. (schleiden-eifel.de)

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)
Analysis of embryonic XY gonads suggests that sex reversal is caused by delayed and reduced expression of the sex-determining gene SRY . (plos.org)
SOX9 gene) of autosome 17 has an effect on how the gonads will develop, for instance, a dysfunctional SOX9 gene has been found to be associated with sex reversals. (biologyonline.com)
The critical gene for male sex determination, SRY (sex-determining region Y), which is located on chromosome Yp11.3, initiates gonads to differentiate into testes, induces Leydig cells to secrete testosterone, develops Wolffian ducts, and forms male external genitalia. (e-kjgm.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)
Autosomal genes play a vital role in metabolic processes, regulating energy production, nutrient metabolism, and the synthesis of essential molecules which is discussed in detail in the next section of the article. (biologyonline.com)
Disruptions in autosomal genes involved in cellular homeostasis can lead to electrolyte imbalances, impaired cell signaling , and malfunctioning cellular processes. (biologyonline.com)
Aberrations in autosomal genes can give rise to a wide range of genetic disorders. (biologyonline.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)
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)
To identify a nuclear marker pathognomonic of astrocytic phenotype, we assessed differential RNA expression by FACS-purified adult astrocytes and, on that basis, evaluated the expression of the transcription factor SOX9 in both mouse and human brain. (jneurosci.org)
Transcriptome comparisons of SOX9+ cells with GLT1+ cells showed that the two populations of cells exhibit largely overlapping gene expression. (jneurosci.org)
Expression of SOX9 did not decrease during aging and was instead upregulated by reactive astrocytes in a number of settings, including a murine model of amyotrophic lateral sclerosis (SOD1G93A), middle cerebral artery occlusion, and multiple mini-strokes. (jneurosci.org)
Gene expression analysis indicates that esrra is expressed in developing pharyngeal arches where genes necessary for cartilage development are also expressed. (nature.com)
Loss of function analysis shows that knockdown of esrra impairs expression of genes including sox9, col2a1, sox5, sox6, runx2 and col10a1 thus induces abnormally formed cartilage in pharyngeal arches. (nature.com)
Importantly, we identify putative ESRRa binding elements in upstream regions of sox9 to which ESRRa can directly bind, indicating that Esrra may directly regulate sox9 expression. (nature.com)
Accordingly, ectopic expression of sox9 rescues defective formation of cartilage induced by the knockdown of esrra . (nature.com)
Taken together, our results indicate for the first time that ESRRa is essential for cartilage development by regulating sox9 expression during vertebrate development. (nature.com)
Expression of esrra is colocalised with genes necessary for cartilage development in pharyngeal arches during zebrafish embryogenesis. (nature.com)
Understanding the role and significance of autosomes in human genetics is crucial for uncovering the complex interplay of genes, their expression, and their impact on health and disease. (biologyonline.com)
Immortalized cells were clonally expanded and characterized based on collagen type I, collagen type II, α1 (COL2A1), and SRY-box 9 (SOX9) protein expression profiles, as well as on expression of a subset of established in vivo NP cell lineage markers. (biomedcentral.com)
In this study, we define the deletion endpoints and examine the impact on expression of flanking genes. (biomedcentral.com)
Normal expression levels were found in TgPWS brain for genes extending 9.1- or 5.6-Mb centromeric or telomeric of the deletion, respectively. (biomedcentral.com)
Other than for the first gene promoters immediately outside the deletion, since genes extending 5.6-9.1 Mb away from each end of the deletion show normal expression levels in TgPWS brain, this indicates that the transgene array does not induce silencing and there are no additional linked rearrangements. (biomedcentral.com)
Using gene expression, non-coding conserved sequence (NCCS) and synteny data, we have genetically mapped a putative Luzp2 neuronal enhancer responsible for ~33% of allelic transcriptional activity. (biomedcentral.com)
Expression of SIRT1/SOX9/LCN2 in the hypoxic cells was determined, and their interactions were predicted by bioinformatics websites and followed by the verification by luciferase assay and chromatin immunoprecipitation (ChIP). (hindawi.com)
miRNAs are small non-coding RNAs (~22 nucleotides in length) that regulate the expression of their target genes by translational repression or mRNA degradation ( 13 , 14 ). (spandidos-publications.com)
Normal male (46,XY) sex determination relies on the presence of the Y-chromosome, specifically on expression of SRY at the appropriate time and place during gonad development. (biomedcentral.com)
Sex determination and development in males occurs during the embryonic period, and is initiated by the expression of SRY gene located on the short arm of the Y chromosome. (biomedcentral.com)

For example, the SRY gene on the Y chromosome encodes the transcription factor TDF and is vital for male sex determination during development. (wikipedia.org)
A translocation breakpoint cluster disrupts the newly defined 3′ end of the SNURF-SNRPN transcription unit on chromosome 15. (biobioseminars.com)
SRY is a transcription factor (involved in turning on genes) whose proximal target is another transcription factor, SOX9. (allandyenshapiro.com)
We identified three undifferentiated SG subsets at postnatal day 7, each of which expresses distinct genes, including transcription factor and signaling genes. (biologists.com)

For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). (wikipedia.org)
Autosomes still contain sexual determination genes even though they are not sex chromosomes. (wikipedia.org)
All human autosomes have been identified and mapped by extracting the chromosomes from a cell arrested in metaphase or prometaphase and then staining them with a type of dye (most commonly, Giemsa). (wikipedia.org)
Autosomes can be described as the non-sex chromosomes that play diverse roles in the human body like harboring genes for the body's metabolism, functioning, and growth. (biologyonline.com)
Human autosomes , the non-sex human chromosomes, are integral components of the human genome . (biologyonline.com)
The human genome is composed of 23 pairs of chromosomes, with autosomes (22 pairs) comprising the majority. (biologyonline.com)
Genes on autosomes and the X chromosome that may have a role in sex determination were deduced through a literature review. (e-kjgm.org)

Deletions of part of a chromosome cause partial monosomies, while duplications can cause partial trisomies. (wikipedia.org)
Most PWS and AS cases (~70%) are due to ~5 Mb de novo deletions spanning a 2 Mb imprinted domain and several adjacent non-imprinted genes [ 1 ]. (biomedcentral.com)
Chromosome 9 aberrations involving the terminal end of p arm, such as terminal p deletions or ring chromosomes have been reported to cause 46,XY DSD. (biomedcentral.com)

The SOX9 protein regulates the activity of other genes, especially those that are important for development of the skeleton and reproductive organs. (medlineplus.gov)

Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations. (biobioseminars.com)
Prader-Willi and Angelman syndrome (PWS and AS) patients typically have an ~5 Mb deletion of human chromosome 15q11-q13, of opposite parental origin. (biomedcentral.com)
A mouse model of PWS and AS has a transgenic insertion-deletion (TgPWS/TgAS) of chromosome 7B/C subsequent to paternal or maternal inheritance, respectively. (biomedcentral.com)
Using molecular and cytological methods we demonstrate that 13 imprinted and 11 non-imprinted genes are included in the TgPWS/TgAS deletion. (biomedcentral.com)
The mapping of a putative Chrna7 neuronal enhancer inside the deletion has significant implications for understanding the transcriptional regulation of this schizophrenia-susceptibility candidate gene. (biomedcentral.com)
examples include aneuploidy (atypical chromosome number), deletion (loss of part of a chromosome), duplications (extra copies of a region of a chromosome), inversion (when part of a chromosome breaks off and reattaches in reverse. (schleiden-eifel.de)
CGH array revealed a deletion around 1.25 Mb at 9p24.3 loci [arr 9p24.3(204,193-1,457,665)× 1] and three duplications around 13 Mb [9p24.3p22.3(1,477,660-14,506,754)× 3] near the breakage point that formed the ring chromosome 9. (biomedcentral.com)

To our knowledge, there have been very few cases of XY DSD caused by DMRT1 gene abnormality reported. (biomedcentral.com)

An autosome is any chromosome that is not a sex chromosome. (wikipedia.org)
The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. (wikipedia.org)
An autosome is defined as any chromosome other than the sex chromosomes . (biologyonline.com)
Figure 2: SOX9 gene on the autosome 17 (long arm) plays an integral role in gonadal sex determination. (biologyonline.com)
Molecular cytogenetic analysis of a de novo balanced X;autosome translocation: Evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformations. (biobioseminars.com)

A comparison of human and chimpanzee genes in the region of this inversion indicates that two genes-ROCK1 and USP14-that are adjacent on chimpanzee chromosome 17 (which corresponds to human chromosome 18) are more distantly positioned on human chromosome 18. (schleiden-eifel.de)

Aneuploidy (abnormal number of chromosomes) Autosomal dominant Autosomal recessive Homologous chromosome Pseudoautosomal region XY sex-determination system Genetic disorder Griffiths, Anthony J. F. (1999). (wikipedia.org)
15, 16 While the underlying genetic factors in a number of the syndromes that include RS have been delineated, 17- 19 the genetic basis for isolated RS remains unclear. (bmj.com)
Molecular genetic research has shown that a change (mutation) in a single copy of the SOX9 gene on chromosome 17 or disturbance in the regulation of this gene causes campomelic syndrome. (orthopedicshealth.com)
Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. (orthopedicshealth.com)
Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. (orthopedicshealth.com)
Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. (orthopedicshealth.com)
All of these genetic changes prevent the SOX9 protein from properly controlling the genes essential for normal development of the skeleton, reproductive system, and other parts of the body. (medlineplus.gov)
These chromosomes play a pivotal role in various aspects of human development, including metabolic pathways, cellular homeostasis , and genetic disorders. (biologyonline.com)
46,XX male sex reversal (also known as testicular DSD) is reported in 1:20,000 to 1:25,000 of newborn males [ 1 ], and is categorized using clinical phenotypes or molecular genetic analysis depending on the presence or absence of the SRY gene. (e-kjgm.org)

Exclusion criteria comprised constitutional hypodiploidy, monosomy 7, composite karyotype, and t(8;21) with concurring sex chromosome loss. (bvsalud.org)

By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. (wikipedia.org)
Given this information, propose a model to explain the generation of unusual males who have two X chromosomes (with a Sry-containing piece of the Y chromosome attached to one X chromosome). (quizlet.com)
In mammals, whether an individual develops as a male or female depends on its sex chromosome constitution: those with a Y chromosome become males because of the development of the embryonic gonad into a testis. (plos.org)
Figure 1: A diagrammatic representation of a total of 46 chromosomes in human beings (females: 44+XX and males: 44+XY). (biologyonline.com)
There are two species of mammal that have completely lost their Y chromosomes, but there are still males and females. (allandyenshapiro.com)
The males have lost the SRY gene, the key maleness-determining factor (the only other essential genes on the Y chromosome being directly implicated in sperm production). (allandyenshapiro.com)
Humans have forty-six chromosomes, including two sex chromosomes, XX in females and XY in males. (en-academic.com)

The chromosome abnormalities disrupt regions of DNA that normally regulate the activity of the SOX9 gene. (medlineplus.gov)
Additionally, SIRT1 can regulate the acetylation of sex determining region Y- (SRY-) box 9 (SOX9) through nuclear translocation [ 10 ]. (hindawi.com)

This may be due to one parent having a mixture of sperm or egg cells with normal and abnormal SOX9 genes (gonadal mosaicism). (orthopedicshealth.com)
The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. (orthopedicshealth.com)
The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. (orthopedicshealth.com)
In 6 to 11% of cases a cell line with a normal or abnormal Y-chromosome is identified by standard cytogenetic techniques [ 4 ]. (biomedcentral.com)

Also, in humans, about half of men will lose the Y chromosome from some of their immune cells as they age. (allandyenshapiro.com)
These are some of the most common cytogenetically visible rearrangements in humans - for example , the pericentric inversion of chromosome 9 is found in over. (schleiden-eifel.de)

SOX9 belongs to the SOX gene family expressed in several organisms and involved in numerous physiological processes such as sex determination and development gonad [ 11 ]. (hindawi.com)
Figure 1 shows genes responsible for development of the undifferentiated gonad to either a testis or an ovary. (pediatricurologybook.com)
Primordial germ cells migrate to the gonadal ridge prior to 6 weeks and the infrastructure to support gonad development is further influenced by various genes. (pediatricurologybook.com)

To identify the clinical characteristics of SRY -negative male patients and genes related to male sex reversal, we performed a retrospective study using cases of 46,XX testicular disorders of sex development with a review of the literature. (e-kjgm.org)
These genes, through differences in gene dosage variation, may have a role in sex reversal in the absence of SRY . (e-kjgm.org)
Sex reversal due to haploinsufficiency of DMRT1 gene in ring chromosome 9 structures is exceedingly rare with only a handful of cases ever reported. (biomedcentral.com)

We suggest that the duplicated chromosome segment 16p13.3 possibly may be responsible for the phenotypes of our case and also may be a candidate locus of non-syndromic PRS. (biomedcentral.com)
Distal and proximal cis-regulatory elements sense X chromosome dosage and developmental state at the Xist locus. (axonmedchem.com)

This gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. (medlineplus.gov)

DAX-1 is considered the "anti-testis gene. (pediatricurologybook.com)
SRY on the Y chromosome is the testis determining gene. (pediatricurologybook.com)
The Sex determining Region on the Y gene ( SRY ) is located on the short arm of the Y-chromosome and is the crucial switch that initiates testis determination and subsequent male development. (biomedcentral.com)

These chromosomes exist in pairs in the somatic cells in contrast to their solo presence in germinal or sex cells , i.e. gametes . (biologyonline.com)

Others, for example the famous 3RP inversion of Drosophila melanogaster, are several megabases in size, include several percent of the entire genome and span hundreds or thousands of genes. (schleiden-eifel.de)
The Human Genome Project has revealed that protein-coding genes represent less than 2% of the total genome sequence [ 7 ], and the remaining greater portion of human genomes are regarded as "junk DNAs", for they do not encode any protein. (oncotarget.com)

As a result, one or more of this parent's children may inherit the gene mutation and exhibit the disorder even though the parent has no apparent symptoms. (orthopedicshealth.com)
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)

Fetuses with aneuploidy of gene-rich chromosomes-such as chromosome 1-never survive to term, and fetuses with aneuploidy of gene-poor chromosomes-such as chromosome 21- are still miscarried over 23% of the time. (wikipedia.org)
Unlike single gene disorders, diseases caused by aneuploidy are the result of improper gene dosage, not nonfunctional gene product. (wikipedia.org)

Specific genes induce gonadal differences, which produce hormonal differences, which cause anatomic differences, leading to psychological and behavioral differences, some of which are innate and some induced by the social environment . (en-academic.com)

Campomelic dysplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. (medlineplus.gov)

Vollmer M, Kremer M, Ruf R, Miot S, Nothwang HG, Wirth J, Otto E, Krapf R, Hildebrandt F. 2000 Molecular cloning of the critical region for glomerulopathy with fibronectin deposits (GFND) and evaluation of candidate genes. (biobioseminars.com)

In mice, the Sry gene is located on the Y chromosome very close to one of the pseudoautosomal regions that pairs with the X chromosome during male meiosis. (quizlet.com)

Chromosome 9pter aberrations, such as ring chromosome have been reported to cause 46,XY disorders of sex development (DSD), due to involvement of DMRT1 gene located at the 9p24.3 region. (biomedcentral.com)

If a normal diploid cell is 2n, the chromosome content of a double tetrasomic cell is designated. (schleiden-eifel.de)

Derivative chromosomes are indicated with arrows. (schleiden-eifel.de)

Brother and sister with mesomelic dysplasia (homozygous dyschondrosteosis gene) and a woman with Leri-Weill syndrome. (medscape.com)

in or near the SOX9 gene and occur in people with no history of the disorder in their family. (medlineplus.gov)
These chromosomes occur in pairs (22 pairs) and are 44 in number in human beings. (biologyonline.com)

Within the spectrum of DSD, there are varying degrees of discordant genitalia to sex chromosomes. (medscape.com)
Approximately 75 percent of affected individuals with a typical male chromosome pattern (46,XY) have normal female genitalia or genitalia that do not look clearly male or clearly female. (medlineplus.gov)

All the other chromosomes are still arranged in pairs of two, but. (schleiden-eifel.de)

Telomerase is an enzyme that maintains telomeres, the protective structures at the ends of chromosomes. (escholarship.org)

Hox genes are key developmental regulators required to specify segmental identity in the developing embryo ( Carroll,1995 ). (silverchair.com)

For example, the karyogram of someone with Patau Syndrome would show that they possess three copies of chromosome 13. (wikipedia.org)
A common example is Down syndrome, which is caused by possessing three copies of chromosome 21 instead of the usual two. (wikipedia.org)
A normal-visioned woman (with both genes present on each of her two X chromosomes) has a red color-blind son who was shown to have one copy of the green-detecting gene and no copies of the red-detecting gene. (quizlet.com)
Autosomal recessive disorders like cystic fibrosis or sickle cell anemia require both copies of an autosomal gene to be mutated for the disorder to manifest. (biologyonline.com)

Sex determination in mammals is controlled by the presence or absence of the Y-linked gene SRY . (plos.org)

Chromosome analysis of cultured peripheral blood cells of 8,386 individuals found 19 cases (0.23%) with 46,XX testicular disorders of sex development. (e-kjgm.org)
These genes were studied in XX testicular/ovotesticular disorders of sex development (DSDs) in the absence of the SRY gene. (e-kjgm.org)
It is obvious that the Y chromosome must carry at least one essential gene which determines testicular formation (originally termed TDF ). (en-academic.com)

The clinical presentation of the subject that mimics Turner syndrome highlights the importance of cytogenetic analysis to detect the possibility of ring chromosome 9. (biomedcentral.com)

The duplicated CREBBP gene within chromosome 16p13.3 is associated with incomplete penetrance regarding the mandible development anomalies. (biomedcentral.com)
The sex chromosome combination, particularly the presence of a Y chromosome, triggers a male pattern of development while its absence promotes female development. (lidsen.com)
Hence, the present study was conducted to verify the hypothesis and explore the specific mechanism among SIRT1, SOX9, and LCN2 in the development of CNV-induced AMD, which will be greatly helpful to enlarge the understanding of CNV-induced AMD and to validate a novel therapy. (hindawi.com)
Genes & Development 21 (3): 316-331. (mdc-berlin.de)

Sex differences may be induced by specific genes , by hormones, by anatomy , or by social learning . (en-academic.com)
The various ways that genes, hormones, and upbringing affect different human behaviors and mental traits are difficult to test experimentally and charged with political conflict. (en-academic.com)
The hormones that play vital role in the first phase of descent are insulin-like hormone 3 (INSL3), Anti-müllerian hormone as well as testosterone, whereas androgens, genitofemoral nerve and its neurotransmitter calcitonin gene-related peptide (CGRP) influence the second phase. (springeropen.com)

The genes encoding the red- and green-color-detecting proteins of the human eye are located next to one another on the X chromosome and probably evolved from a common ancestral pigment gene. (quizlet.com)
Alzheimer's possesses complex pathologies of heterogeneous nature counting proteins as one major factor along with enzymes and mutated genes. (benthamscience.com)

Prader-Willi and Angelman syndrome (PWS and AS) are complex neurobehavioral disorders associated with loss of function of a cluster of differentially expressed imprinted genes in chromosome 15q11-q13 [ 1 ]. (biomedcentral.com)

This terminal region of chromosome 9p (9p24.3 region) contains 3 types of DMRT genes ( DMRT1 - 3 ). (biomedcentral.com)

Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18. (biobioseminars.com)

The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. (orthopedicshealth.com)

In one review, 7% of people with true hermaphroditism had normal labia majora, 13% had hemiscrotum, 17% had a normal scrotum, and 63% had labioscrotal folds. (medscape.com)

Conclusion: SRY and the sperm production factors aren't the only important thing on the Y chromosome. (allandyenshapiro.com)

It relates to the idea that our species' Y chromosome has been losing size for longer than vertebrates have been around because it doesn't do crossing-over at meiosis. (allandyenshapiro.com)
In these species, SOX9 is on one of the other (non-sex) chromosomes. (allandyenshapiro.com)

17 . Consider the following observations in sequence, and in each case, draw whatever appropriate conclusions are warranted. (quizlet.com)

We identified both gene and protein markers for three temporally distinct ProSG cell subsets, including a migratory cell population with a transcriptome distinct from the previously defined T1- and T2-ProSG stages. (biologists.com)

Anatomy57

Organisms10

Diseases24

Chemicals and Drugs38

Analytical, Diagnostic and Therapeutic Techniques and Equipment31

Psychiatry and Psychology1

Phenomena and Processes160

Disciplines and Occupations1

Anthropology, Education, Sociology and Social Phenomena1

Technology, Industry, Agriculture1

Information Science4

Named Groups1

Health Care5

Balanced translocation1

20231

Differentiation8

Mutations12

Chromosomal7

Rearrangement3

Gonads4

Autosomal genes4

Expression21

Transcription4

Autosomes7

Deletions3

Regulates1

Deletion7

Abnormality1

Autosome5

Human chromosome1

Genetic9

Karyotype1

Males7

Regulate2

Abnormal4

Humans2

Gonad3

Reversal3

Locus2

Embryonic1

Testis3

Somatic cells1

Genome2

Mutation2

Aneuploidy2

Induce1

Campomelic1

Candidate genes1

Pseudoautosomal1

Aberrations1

Diploid cell1

Derivative1

Dysplasia1

Occur2

Genitalia2

Pairs1

Structures1

Developmental1

Copies4

Determination1

Testicular3

Cytogenetic analysis1

Development4

Hormones3

Proteins2

Disorders1

Terminal region1

Clinical1

Defective1

Labioscrotal1

Sperm1

Species2

Conclusions1

Transcriptome1