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FOXG1
Forkhead box protein G1 is a protein that in humans is encoded by the ''FOXG1'' gene. Function This gene belongs to the forkhead family of transcription factors that is characterized by a distinct forkhead domain. The complete function of this gene has not yet been determined; however, it has been shown to play a role in the development of the brain and telencephalon. Mutations of FOXG1 are the cause of FoxG1 syndrome. Associated disorders FOXG1 syndrome is characterized by microcephaly and brain malformations. It affects most aspects of development and can cause seizures. FOXG1 syndrome is classified as an autism spectrum disorder and was previously considered a variant of Rett syndrome. Interactions FOXG1 has been shown to interact with JARID1B. See also * FOX proteins FOX (forkhead box) proteins are a family of transcription factors that play important roles in regulating the expression of genes involved in cell growth, proliferation, Cellular differentiation, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FOXG1 Syndrome
FOXG1 syndrome (sometimes FOXG1-related disorder) is a rare genetic disorder caused by mutation in the gene FOXG1. The main signs of this disease are: severe intellectual disability, microcephaly, epilepsy, and hyperkinetic-dyskinetic movement disorder and hypotonia with brain structure anomalies. FOXG1 syndrome is inherited in autosomal dominant fashion. The syndrome affects about 1/30 000 births, with about 1200 cases having been reported as of January 1, 2025. Symptoms Most frequently, people with FOXG1 syndrome have abnormal hand movements, problems with walking, dyskinesia, difficulties with feeding, hypotonia, strabismus, progressive microcephaly, and anomalies of the corpus callosum. They also frequently exhibit absence of speech, autistic behavior, teeth grinding or clenching, delayed myelination, bilateral tonic-clonic seizures, choreoathetosis, intellectual disability, gastroesophageal reflux disease (GERD), weight loss, constipation, sialorrhea (drooling), freq ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rett Syndrome
Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6–18 months of age and almost exclusively in girls. Symptoms include impairments in language and coordination, and repetitive movements. Those affected often have slower growth, difficulty walking, and a smaller head size. Complications of Rett syndrome can include seizures, scoliosis, and sleeping problems. The severity of the condition is variable. Rett syndrome is due to a genetic mutation in the '' MECP2'' gene, on the X chromosome. It almost always occurs as a new mutation, with less than one percent of cases being inherited. It occurs almost exclusively in girls; boys who have a similar mutation typically die shortly after birth. Diagnosis is based on the symptoms and can be confirmed with genetic testing. There is no known cure for Rett syndrome. Treatment is directed at improving symptoms. Anticonvulsants may be used to help with seizures. Special education, physiotherapy, and le ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FOX Proteins
FOX (forkhead box) proteins are a family of transcription factors that play important roles in regulating the expression of genes involved in cell growth, proliferation, Cellular differentiation, differentiation, and longevity. Many FOX proteins are important to embryonic development. FOX proteins also have pioneer factor, pioneering transcription activity by being able to bind condensed chromatin during cell differentiation processes. There are 50 different FOX genes encoding FOX proteins in humans that are further divided into 19 subdivisions based on conserved sequence similarity. The defining feature of FOX proteins is the fork head domain, forkhead box, a sequence of 80 to 100 amino acids forming a DNA motif, motif that binds to DNA. This forkhead motif is also known as the Winged-helix transcription factors, winged helix, due to the butterfly-like appearance of the loops in the protein structure of the domain. FOX proteins are a subgroup of the helix-turn-helix class of prote ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
JARID1B
Lysine-specific demethylase 5B also known as histone demethylase JARID1B is a demethylase enzyme that in humans is encoded by the ''KDM5B'' gene. JARID1B belongs to the alpha-ketoglutarate-dependent hydroxylase superfamily. Function Jarid1B (also known as KDM5B or PLU1) is in the family of JHDM genes. These are responsible for demethylation of tri- and di-methylated lysines in the 4 position of histone 3 (H3K4me3 and H3K4me2). Jarid1B is a multidomain enzyme that is part of the subfamily KDM5. The whole Jarid1 family is a protein family that possesses H3K4 histone demethylase activity. Jarid1B has been implicated in the development of prostate, breast, and skin cancer and also has been associated with melanoma maintenance. Knockout mice (Jarid1b−/−) produced are viable in neonatal life. These mice do exhibit the phenotype of premature mortality, decreased fertility in female mice, reduction in body weight and impairment in mammary gland development. It also acted to decreas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FOX Proteins
FOX (forkhead box) proteins are a family of transcription factors that play important roles in regulating the expression of genes involved in cell growth, proliferation, Cellular differentiation, differentiation, and longevity. Many FOX proteins are important to embryonic development. FOX proteins also have pioneer factor, pioneering transcription activity by being able to bind condensed chromatin during cell differentiation processes. There are 50 different FOX genes encoding FOX proteins in humans that are further divided into 19 subdivisions based on conserved sequence similarity. The defining feature of FOX proteins is the fork head domain, forkhead box, a sequence of 80 to 100 amino acids forming a DNA motif, motif that binds to DNA. This forkhead motif is also known as the Winged-helix transcription factors, winged helix, due to the butterfly-like appearance of the loops in the protein structure of the domain. FOX proteins are a subgroup of the helix-turn-helix class of prote ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metabolic reactions, DNA replication, Cell signaling, responding to stimuli, providing Cytoskeleton, structure to cells and Fibrous protein, organisms, and Intracellular transport, transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the Nucleic acid sequence, nucleotide sequence of their genes, and which usually results in protein folding into a specific Protein structure, 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called pep ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and non-coding genes. During gene expression (the synthesis of Gene product, RNA or protein from a gene), DNA is first transcription (biology), copied into RNA. RNA can be non-coding RNA, directly functional or be the intermediate protein biosynthesis, template for the synthesis of a protein. The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population (biology), population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Brain
The brain is an organ (biology), organ that serves as the center of the nervous system in all vertebrate and most invertebrate animals. It consists of nervous tissue and is typically located in the head (cephalization), usually near organs for special senses such as visual perception, vision, hearing, and olfaction. Being the most specialized organ, it is responsible for receiving information from the sensory nervous system, processing that information (thought, cognition, and intelligence) and the coordination of motor control (muscle activity and endocrine system). While invertebrate brains arise from paired segmental ganglia (each of which is only responsible for the respective segmentation (biology), body segment) of the ventral nerve cord, vertebrate brains develop axially from the midline dorsal nerve cord as a brain vesicle, vesicular enlargement at the rostral (anatomical term), rostral end of the neural tube, with centralized control over all body segments. All vertebr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cerebrum
The cerebrum (: cerebra), telencephalon or endbrain is the largest part of the brain, containing the cerebral cortex (of the two cerebral hemispheres) as well as several subcortical structures, including the hippocampus, basal ganglia, and olfactory bulb. In the human brain, the cerebrum is the uppermost region of the central nervous system. The cerebrum prenatal development, develops prenatally from the forebrain (prosencephalon). In mammals, the Dorsum (biology), dorsal telencephalon, or Pallium (neuroanatomy), pallium, develops into the cerebral cortex, and the ventral telencephalon, or Pallium (neuroanatomy), subpallium, becomes the basal ganglia. The cerebrum is also divided into approximately symmetric Lateralization of brain function, left and right cerebral hemispheres. With the assistance of the cerebellum, the cerebrum controls all voluntary actions in the human body. Structure The cerebrum is the largest part of the brain. Depending upon the position of the animal, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autism Spectrum Disorder
Autism, also known as autism spectrum disorder (ASD), is a neurodevelopmental disorder characterized by differences or difficulties in social communication and interaction, a preference for predictability and routine, sensory processing differences, Special interest (autism), focused interests, and repetitive behaviors, which may include stimming. Formal Diagnosis of autism, diagnosis requires significant challenges in multiple domains of life, with characteristics that are atypical or more pronounced than expected for one's age and sociocultural context.(World Health Organization: International Classification of Diseases version 11 (ICD-11)): https://icd.who.int/browse/2024-01/mms/en#437815624 Motor coordination difficulties are common but not required for diagnosis. Autism is a spectrum disorder, resulting in wide variations in presentation and support needs, such as that between speaking and Nonverbal autism, non-speaking populations. Increased estimates of Epidemiology ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
