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Genetics and Epigenetics of Genitourinary Diseases
- 1st Edition - August 27, 2024
- Editor: Seyed Mohammad Kazem Aghamir
- Language: English
- Paperback ISBN:9 7 8 - 0 - 4 4 3 - 2 7 3 0 2 - 5
- eBook ISBN:9 7 8 - 0 - 4 4 3 - 2 7 3 0 3 - 2
Genetics and Epigenetics of Genitourinary Diseases aims to provide a comprehensive collection of data on genetics and epigenetics in almost all genitourinary diseases for researche… Read more
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Request a sales quoteGenetics and Epigenetics of Genitourinary Diseases aims to provide a comprehensive collection of data on genetics and epigenetics in almost all genitourinary diseases for researchers, clinicians, and graduate students.
This book discusses several genetic and epigenetic changes like DNA methylation, mutations, single nucleotide polymorphisms, DNA rearrangements, chromosomal remodeling, microsatellite instability, and chromosomal instability (CIN) in genitourinary cancers.
This book is split into 18 chapters, beginning with the importance of genetics and epigenetics in genitourinary diseases. It then goes on to cover the genetics and epigenetics of various diseases and tumors. Certain chapters present novel techniques of next-generation sequencing (NGS). Furthermore, RNA-Seq is discussed as a sequencing technique that uses NGS to reveal the presence and quantity of RNA in a biological sample.
This book is a valuable resource for researchers, practitioners, and students in genetics and epigenetics who want to broaden their understanding of the field.
- Provides a unique collection of genetics and epigenetics in genitourinary
- Covers the subject of genetic and epigenetics in urological malignancies, infertility, and urolithiasis
- Gives novel insights into genitourinary diseases even the rare ones and sheds light on genitourinary diseases from DNA methylation to CIN
Researchers, Practitioners, Upper graduates, Graduates, Professionals, Medical students, General Population, Health Politicians
- Cover image
- Title page
- Table of Contents
- Copyright
- List of contributors
- Chapter 1. Introduction (importance of genetic and epigenetics in genitourinary diseases)
- Abstract
- Introduction
- References
- Chapter 2. Epidemiological point of view
- Abstract
- Introduction
- Kidney disease
- Alport syndrome
- Wegener granulomatosis
- Renal coloboma syndrome
- Fraser syndrome
- Inherited renal tubulopathies
- Fanconi syndrome
- Lowe syndrome
- Wilson disease
- Liddle syndrome
- Gitelman syndrome
- Male urogenital disease
- Cryptorchidism
- Benign prostatic hyperplasia
- Adrenal disease
- Cushing’s syndrome
- Primary hyperaldosteronism
- Li–Fraumeni syndrome
- Beckwith–Wiedemann syndrome
- Pheochromocytoma
- Congenital adrenal hyperplasia
- Kidney stone
- Female urology
- Pelvic floor disorders
- Urinary incontinence
- Overactive bladder
- Urinary tract infections
- Female sexual dysfunction
- Male infertility
- Urologic tumor
- Kidney tumor
- Prostate tumor
- Bladder tumor
- Penis tumor
- Adrenal gland tumor
- Conclusion
- References
- Chapter 3. Molecular biology and genetic change definition
- Abstract
- Introduction
- Chromosome
- Genes
- Different types of inheritance
- Mutation
- Types of mutations
- Somatic mutation
- Germline mutations
- Missense mutation
- Nonsense mutation
- Insertion mutation
- Deletion mutation
- Frameshift mutation
- Repeat expansion mutation
- Insertion–deletion mutations (indels)
- Structural effects of mutations on proteins
- Synonymous or silent mutations
- Nonsynonymous mutations
- Mutations in noncoding DNA
- Splicing mutations
- Functional effects of mutations on proteins
- Loss-of-function
- Haploinsufficiency
- Gain-of-function mutations
- Dominant-negative mutation
- Genotype-phenotype correlation
- Chromosomal abnormalities
- Numerical anomalies
- Structural abnormalities
- Chromosomal deletion
- Chromosomal duplication mutation
- Translocation mutation
- Types of translocation mutations
- Types of inversions
- Paracentric inversion
- Pericentric inversion
- Ring chromosome
- Mosaicism
- Chimerism
- References
- Chapter 4. Molecular biology and epigenetic modifications definition
- Abstract
- Introduction
- Molecular basis of epigenetic changes
- Mechanisms of epigenetics
- RNA molecule methylation
- Histone modifications
- Noncoding RNAs
- Abnormal epigenetic changes in cancer progression
- Epigenetic therapy in cancer
- Clinical application of lncRNA in urological cancer management
- Bladder cancer
- Bladder cancer epigenetics
- Regulation of gene expression by miRNAs
- Regulation of gene expression through histone modifications
- Application of epigenetics in bladder cancer diagnosis
- Epigenetics role in bladder cancer prognosis
- Therapeutic goals with epigenetic assistance
- DNA methyltransferase inhibitors
- Histone deacetylase inhibitors
- Prostate cancer
- Epigenetics of prostate cancer
- Gene methylation in prostate cancer
- Epigenetic role of miRNAs in prostate cancer
- Regulation of miRNA function through methylation
- Regulation of epigenetic structures by miRNAs
- Histone deacetylases in prostate cancer
- MiRNAs and the androgen receptor pathway
- Renal cell carcinoma
- Epigenetics of renal cell carcinoma
- PI3K/AKT/mTOR signaling pathway
- VEGF signaling pathway
- TGF-B/NF-kB signaling pathway
- Immunity-related and metabolic pathway
- miRNAs' role as oncogenic factors
- PI3K/AKT signaling pathway
- TGF-B/Wnt signaling pathway
- NF-kB signaling pathway
- RAS/MAPK signaling pathway
- miRNAs application as diagnostic biomarkers in renal cell carcinoma
- The role of lncRNAs in renal cell carcinoma
- Application of lncRNAs as diagnostic biomarkers
- Application of lncRNAs in predicting patient prognosis
- Application of lncRNAs to achieve therapeutic goals
- Testicular cancer
- Epigenetics of testicular cancer
- Epigenetics in treatment of testicular tumors
- Conclusion
- References
- Chapter 5. Molecular biology, genetic, and epigenetics of kidney disease
- Abstract
- Introduction
- Congenital anomalies of the kidney and urinary tract
- Agenesis, dysplasia, and hypoplasia of kidney
- Genetics of agenesis, dysplasia, and hypoplasia of kidney
- Horseshoe kidney
- Ectopic kidney
- Medullary cystic kidney disease type 1
- Dent disease
- Nephronophthisis
- Juvenile Nephronophthisis
- Infantile Nephronophthisis
- Senior-Loken syndrome
- Meckel–Gruber syndrome
- Nephropathic Cystinosis
- Goodpasture syndrome
- Saldino–Mainzer syndrome
- Renal artery stenosis
- Renal tubular acidosis
- Genetics of distal renal tubular acidosis (RTA Type 1)
- Autosomal dominant renal tubular acidosis without or with delayed hearing loss
- Acid–base disorder and KCC4 mutation
- Genetics of proximal renal tubular acidosis (RTA Type 2)
- Genetics of autosomal dominant RTA Type 2 with visual impairments
- Autosomal dominant renal tubular acidosis type 2
- Renal tubular acidosis type 3
- Dent disease
- Renal tubular acidosis Type 4 with hyperkalemia
- Pseudohypoaldosteronism Type 1
- Pseudohypoaldosteronism Type 2
- Bardet–Biedl syndrome
- Tuberous Sclerosis
- Renal inherited tubulopathies
- Fanconi syndrome
- Cerebroocular renal dystrophy (Lowe syndrome)
- Bartter syndrome and Gitelman syndrome
- Similar disorders
- Bartter syndrome Type I or neonatal Bartter syndrome
- Bartter syndrome Type II
- Bartter syndrome Type III
- Bartter syndrome Type IV
- Medullary Sponge Kidney
- Polycystic kidney disease
- Genetics
- Management and treatment
- Symptoms and diagnosis
- Management and treatment of Alport syndrome
- Genetics
- Wegener’s syndrome
- Epidemiology
- Risk factors
- Symptoms
- Diagnosis
- Treatment
- Genetics
- Gitelman syndrome
- Townes–Brocks syndrome
- 17q12 Deletion syndrome
- Branchio-oto-renal syndrome
- Familial Mediterranean fever
- Diabetes mellitus (Type II)
- Conclusion
- References
- Chapter 6. Molecular biology, genetic, and epigenetics of bladder disease
- Abstract
- Introduction
- Nocturia
- Overactive bladder
- Conclusion
- References
- Chapter 7. Molecular biology, genetic, and epigenetics of prostate disease
- Abstract
- Introduction
- Benign prosate hyperplasia
- Gene changes related to the cell cycle and apoptosis
- Gene deletion and duplication
- Conclusion
- References
- Chapter 8. Molecular biology, genetic, and epigenetics of testis disease
- Abstract
- Introduction
- Orchitis
- Genetic control of EAO
- Linkage mapping of EAO traits
- Inguinal hernia
- Genetics of inguinal hernia
- Epididymitis
- Spermatocele
- Genetics of speramtocele
- Hydrocele
- Varicocele
- Genetics and epigenetics
- Testicular torsion
- Familial patterns and inheritance
- Genetic risk factors
- Epigenetic mechanisms
- References
- Chapter 9. Molecular biology, genetic, and epigenetics of ureteral disease
- Abstract
- Introduction
- Ureteral disease
- Vesicoureteral reflux
- Ureteral duplication
- Ectopic ureter
- Ureterocele
- Other factors contributing to the ureteral system development
- Conclusion
- References
- Chapter 10. Molecular biology, genetic, and epigenetic urolithiasis
- Abstract
- Introduction
- Water deficiency
- Gastrointestinal issues
- Dietary factors
- Genetics
- Types of kidney and urinary stones
- Primary hyperoxaluria
- Cystinuria
- Uric acid stones
- Lesch–Nyhan syndrome
- Guanine stones
- Genetic association with guanine stones
- 2,8-dihydroxyadenine stones
- The cause of the formation of 2,8-dihydroxyadenine stones
- Epidemiology
- Genetic association with 2,8-dihydroxyadenine stones
- Magnesium ammonium phosphate stones (struvite)
- Formation of struvite stones and calcium stones
- Epidemiology
- Calcium stones
- Genetic reasons for the occurrence of calcium stones
- Autosomal dominant hypocalcemia (ADH)
- Conclusion
- References
- Chapter 11. Infertility and the chromosomal abnormalities
- Abstract
- Introduction
- Male infertility
- Diagnosis
- Genetics
- Chromosome number disorders
- Numerical anomalies
- Klinefelter syndrome (47, XXY)
- Fertility of patients with Klinefelter
- Jacobs syndrome (47, XYY)
- Symptoms
- Genetics
- Fertility
- Down syndrome
- Genetics
- Chromosome structural disorders
- Chromosome skeletal disorders
- Robertsonian translocation
- Inversion
- Y chromosome microdeletion
- Complete globozoospermia
- Hypospadias
- Persistent Mullerian duct syndrome
- Cryptorchidism
- Known genetic causes of cryptorchidism
- Decreased androgen levels
- Disruption of androgen synthesis or action
- Congenital hypogonadotropic hypogonadism
- Varicocele
- Epidemiology
- Risk factors and factors related to the disease
- Symptoms
- Diagnostic methods
- Treatment methods
- Genetics
- Bilateral congenital absence of the vas deferens
- Mutation in the cystic fibrosis transmembrane conductance regulator gene
- Genetics
- Bardet–Biedl syndrome
- Prader–Willi syndrome
- Primary ciliary dyskinesia
- Genetic
- Male infertility with monogenic causes
- Campomelic dysplasia
- Pseudohermaphrodism
- Male pseudohermaphrodism
- Hermaphrodism 46, XX
- True hermaphroditism
- Androgen resistance
- Neuroendocrine control of reproduction
- 21-Hydroxylase deficiency (congenital adrenal hyperplasia)
- Conclusion
- References
- Chapter 12. Biology of cancer
- Abstract
- What is cancer?
- General characteristics of cancers
- Warburg effect
- Loss of heterozygosity
- Hereditary or acquired cancers
- DNA damages and their repair
- Repair of single-nucleotide damaged lesions
- Single-strand breaks
- Double strand breaks
- Repair of double-strand breaks
- The relation between DNA damage and cancer
- Cellular senescence
- Antiapoptotic factors
- Apoptotic factors
- TP53
- Antiapoptotic factors
- Mitotic death
- Telomere length
- Metastasis
- Conclusion
- References
- Chapter 13. Molecular biology, genetic, and epigenetics of testis tumor
- Abstract
- Introduction
- Testicular germ cell tumors
- Epidemiology of different subtypes of testicular cancer
- Predisposition of diseases and nongenetic factors
- Genetic risk factors of testicular cancer
- Single-nucleotide polymorphism
- Copy number variations
- Epigenetic risk factors of testicular cancer
- Role of noncoding RNAs in testicular cancer
- Role of transposable elements in testicular cancer
- Significance of endogenous retroviral gene in testicular cancer
- Conclusion
- References
- Chapter 14. Molecular biology, genetic, and epigenetics of kidney tumor
- Abstract
- Renal cancer
- Renal cell carcinoma
- Epidemiology
- Clinical manifestations
- Diagnosis
- Treatment
- Genetics
- Birt–Hogg–Dubé syndrome
- Fumarate hydratase
- Succinate dehydrogenase
- Tuberous sclerosis
- Von Hippel–Lindau
- Wilms tumor
- Cowden syndrome
- Conclusion
- References
- Chapter 15. Molecular biology, genetic, and epigenetics of prostate tumor
- Abstract
- Introduction
- Prostate tumors
- Genetics
- Hereditary prostate cancer
- Somatic genetic alterations
- Tumor suppressor genes and heterozygote loss
- Retinoblastoma
- Structural rearrangement
- Invasion suppressor genes and metastasis
- Prostate cancer and androgens
- Polymorphism
- Epigenetics
- Histone modification and androgen receptor activity
- Suppression of apoptosis
- Cellular pathways
- Conclusions
- References
- Chapter 16. Molecular biology, genetic, and epigenetics of bladder tumor
- Abstract
- TERT
- TSC1
- HRAS
- CDKN2A
- STAG2
- KDM6A
- PIK3CA
- P53/RB pathway signaling
- TP53
- RB1
- Conclusion
- References
- Chapter 17. Molecular biology, genetic, and epigenetics of adrenal tumor
- Abstract
- Renal tumors
- Causes of Addison’s disease
- Clinical manifestations
- Genetics
- Cushing syndrome
- Epidemiology
- Risk factors
- Clinical manifestations
- Diagnosis
- Low-dose dexamethasone suppression test
- 24-hour urine collection to measure cortisol levels
- Nocturnal cortisol measurement
- Nocturnal salivary cortisol level
- Treatment modalities
- Genetics
- Genetic syndromes of the cortical part of the adrenal gland
- Duplication and deletion of genes
- Special genetic changes
- Li–Framini syndrome
- Diagnosis
- Beckwith–Wiedmann syndrome
- Diagnosis
- Multiple endocrine neoplasia type 1
- Congenital adrenal hyperplasia
- Diagnosis
- Conclusion
- References
- Chapter 18. Molecular biology, genetic, and epigenetics female urology
- Abstract
- Introduction
- Lower urinary tract symptoms
- Epidemiology
- Risk factors
- Pelvic floor disorder
- Stress urinary incontinence
- Overactive bladder and urinary incontinence
- Detrusor underactivity
- Genetics
- Conclusion
- References
- Index
- No. of pages: 300
- Language: English
- Edition: 1
- Published: August 27, 2024
- Imprint: Academic Press
- Paperback ISBN: 9780443273025
- eBook ISBN: 9780443273032
SK
Seyed Mohammad Kazem Aghamir
Dr Seyed Mohammad Kazem Aghamir is a full professor at Tehran University of Medical Sciences and runs the urology research center. He conducts several projects at URC in the field of basic science and high technology in urological malignancies. Very recently, he has published two books “Liquid Biopsy in Urogenital Cancers and its Clinical Utility” and “stem cell in urology”.
Affiliations and expertise
Professor, Tehran University of Medical Sciences, Tehran, IranRead Genetics and Epigenetics of Genitourinary Diseases on ScienceDirect