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  2. CDKL5 - Wikipedia

    en.wikipedia.org/wiki/CDKL5

    CDKL5 is a gene that provides instructions for making a protein called cyclin-dependent kinase-like 5 also known as serine/threonine kinase 9 (STK9) that is essential for normal brain development. Mutations in the gene can cause deficiencies in the protein.

  3. CDKL5 deficiency disorder - Wikipedia

    en.wikipedia.org/wiki/CDKL5_deficiency_disorder

    The mother's mutant CDKL5 allele was skewed in its X-inactivation, being expressed in only 20% of circulating lymphoblasts. However, her daughter, who was diagnosed with CDD, expressed the mutant in 50% of her circulating lymphoblasts. [5] Females: a mutation in one of the two copies of the CDKL5 gene in each cell causes the disorder.

  4. Cyclin-dependent kinase 5 - Wikipedia

    en.wikipedia.org/wiki/Cyclin-dependent_kinase_5

    12568 Ensembl ENSG00000164885 ENSMUSG00000028969 UniProt Q00535 P49615 RefSeq (mRNA) NM_001164410 NM_004935 NM_007668 RefSeq (protein) NP_001157882 NP_004926 NP_031694 Location (UCSC) Chr 7: 151.05 – 151.06 Mb Chr 5: 24.62 – 24.63 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Cyclin-dependent kinase 5 is a protein, and more specifically an enzyme, that is encoded by the Cdk5 ...

  5. List of genetic disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_genetic_disorders

    The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.

  6. Cyclin-dependent kinase - Wikipedia

    en.wikipedia.org/wiki/Cyclin-dependent_kinase

    Sir Paul M. Nurse (b. 1949): In the mid-1970s, Nurse's studies uncovered the cdc2 gene in fission yeast, which is crucial for the progression of the cell cycle from G1 to S phase and from G2 to M phase. In 1987, he identified the corresponding gene in humans, CDK1, highlighting the conservation of cell cycle control mechanisms across species.

  7. Infantile epileptic spasms syndrome - Wikipedia

    en.wikipedia.org/wiki/Infantile_epileptic_spasms...

    Infantile epileptic spasms syndrome (IESS) previously known as West syndrome needs the inclusion of epileptic spasms for diagnosis. [1] Epileptic spasms (also known as infantile spasms) may also occur outside of a syndrome (that is, in the absence of hypsarrhythmia and cognitive regression) - notably in association with severe brain disorders (e.g. lissencephaly).

  8. CCL5 - Wikipedia

    en.wikipedia.org/wiki/CCL5

    20304 Ensembl ENSG00000271503 ENSG00000274233 ENSMUSG00000035042 UniProt P13501 P30882 RefSeq (mRNA) NM_002985 NM_001278736 NM_013653 RefSeq (protein) NP_001265665 NP_002976 NP_038681 Location (UCSC) Chr 17: 35.87 – 35.88 Mb Chr 11: 83.42 – 83.42 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Chemokine (C-C motif) ligand 5 (also CCL5) is a protein which in humans is encoded by ...

  9. c-Jun N-terminal kinases - Wikipedia

    en.wikipedia.org/wiki/C-Jun_N-terminal_kinases

    The c-Jun N-terminal kinases consist of ten isoforms derived from three genes: JNK1 (four isoforms), JNK2 (four isoforms) and JNK3 (two isoforms). [2] Each gene is expressed as either 46 kDa or 55 kDa protein kinases, depending upon how the 3' coding region of the corresponding mRNA is processed.

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