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Bardet−Biedl Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Differential diagnoses for BBS include conditions which demonstrate clinical resemblances, including McKusick-Kaufman syndrome (MKKS, autosomal recessive disorder; causing the triad of hydrometrocolpos, postaxial polydactyly, and congenital heart disease, as well as genitourinary abnormalities, underdeveloped lungs, gastrointestinal abnormalities, and kidney defects; due to mutations in the BBS6/MKKS gene), Alstrom syndrome (autosomal recessive disorder; causing cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated cardiomyopathy, insulin-resistant diabetes mellitus syndrome, and developmental delay; due to ALMS1 mutations), Joubert syndrome (autosomal recessive disorder; causing episodic hyperpnea, developmental delay, intellectual disability, hypotonia, oculomotor apraxia, ataxia, vermis hyoplasia or agenesis, characteristic molar tooth sign on cranial magnetic resonance imaging, retinal dystrophy, cystic dysplasia and nephronophthisis, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities; due to mutations in NPHP1, AHI1, CEP290/NPHP6, TMEM67/MKS3, RPGRIP1L, CC2D2A, ARL13B, INPP5E, OFD1, TMEM216, KIF7, TCTN1, TCTN2, TMEM237, CEP41, TMEM138, CPLANE1, and TTC21B), Senior−Løken syndrome (autosomal recessive disorder; causing retinitis pigmentosa, cystic renal dysplasia, nephronophthisis, medullary cystic kidneys, polycystic kidneys., cerebellar vermis hypoplasia, ataxia, developmental delay, intellectual disability, occipital encephalocele, and oculomotor apraxia; due to mutations in CEP290, NPHP1, NPHP3, NPHP4, IQCB1, and SDCCAG8), Meckel syndrome (autosomal recessive disorder causing the triad of occipital encephalocele, large polycystic kidneys, and postaxial polydactyly as well as orofacial clefting, genital anomalies, CNS malformations, fibrosis of the liver, pulmonary hypoplasia; due to distinct mutations in the BBS2, BBS4, and BBS6 genes), Leber congenital amaurosis (causing severe dystrophy of the retina, nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia, and keratoconus, eye poking, pressing, and rubbing; due to mutations n GUCY2D, RPE65, SPATA7, AIPL1, LCA5, RPGRIP1, CRX, CRB1, IMPDH1, RD3, RDH12, and CEP290; mutations in LRAT and TULP1 may be associated with an LCA-like phenotype), Biemon syndrome type II (autosomal recessive disorder; causing iris coloboma, intellectual disability, obesity, polydactyly, hypogonadism, hydrocephalus, and facial dysostosis), Prader−Willi syndrome (genetic disorder; causing hypotonia, feeding difficulties, failure to thrive, short stature, genital abnormalities, excessive appetite, progressive obesity, cognitive impairment, temper tantrums, obsessive/compulsive behavior, skin picking; due to nonfunctional genes in a region of chromosome 15) [26,37].
Newer human inosine 5′-monophosphate dehydrogenase 2 (hIMPDH2) inhibitors as potential anticancer agents
Published in Journal of Enzyme Inhibition and Medicinal Chemistry, 2018
Chetan P. Shah, Prashant S. Kharkar
The enzyme human IMPDH exists in two isoforms (type 1 and type 2). These isoforms are of identical size and share 84% sequence identity. However, the type 1 “housekeeping” isoform is constitutively expressed in both normal and neoplastic cells, while type 2 expression is preferentially upregulated in human neoplastic cell lines10. Human IMPDH type 1 (hIMPDH1) has been identified as an anti-angiogenic drug target and mycophenolic acid (MPA) was found to block tumour-induced angiogenesis (in vivo)11 while the disproportionate increase in human IMPDH type 2 (hIMPDH2) activity in neoplastic cells has made this isoform a key target for the development of anticancer drug discovery12,13. Also, hIMPDH2 has become a major drug target for immunosuppression14,15, antiviral16 and parasitic infestations17–20.
Getting immunosuppression just right: the role of clinical biomarkers in predicting patient response post solid organ transplantation
Published in Expert Review of Clinical Pharmacology, 2021
Genetic differences in IMPDH isoforms might be responsible for the large interindividual variation in IMPDH activity. Molinaro et al. [36] found significantly higher pre-transplant gene expression of both IMPDH1 (median 3.42 vs. 0.84; p = 0.0025) and IMPDH2 (135 vs. 104; p = 0.0218) in patients with an acute rejection episode during the 1st year after transplantation than in patients who did not experience rejection. After transplantation, IMPDH1 and IMPDH2 gene expression is influenced by glucocorticoid drugs [36,37], so assessing the pre-transplant gene expression of these biomarkers would likely be better.