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The Genetic Basis for Skeletal Diseases
insight review articles The genetic basis for skeletal diseases Elazar Zelzer & Bjorn R. Olsen Harvard Medical School, Department of Cell Biology, 240 Longwood Avenue, Boston, Massachusetts 02115, USA (e-mail: [email protected]) We walk, run, work and play, paying little attention to our bones, their joints and their muscle connections, because the system works. Evolution has refined robust genetic mechanisms for skeletal development and growth that are able to direct the formation of a complex, yet wonderfully adaptable organ system. How is it done? Recent studies of rare genetic diseases have identified many of the critical transcription factors and signalling pathways specifying the normal development of bones, confirming the wisdom of William Harvey when he said: “nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path”. enetic studies of diseases that affect skeletal differentiation to cartilage cells (chondrocytes) or bone cells development and growth are providing (osteoblasts) within the condensations. Subsequent growth invaluable insights into the roles not only of during the organogenesis phase generates cartilage models individual genes, but also of entire (anlagen) of future bones (as in limb bones) or membranous developmental pathways. Different mutations bones (as in the cranial vault) (Fig. 1). The cartilage anlagen Gin the same gene may result in a range of abnormalities, are replaced by bone and marrow in a process called endo- and disease ‘families’ are frequently caused by mutations in chondral ossification. Finally, a process of growth and components of the same pathway. -
Creating an Artificial 3-Dimensional Ovarian Follicle Culture System
micromachines Article Creating an Artificial 3-Dimensional Ovarian Follicle Culture System Using a Microfluidic System Mae W. Healy 1,2, Shelley N. Dolitsky 1, Maria Villancio-Wolter 3, Meera Raghavan 3, Alexandra R. Tillman 3 , Nicole Y. Morgan 3, Alan H. DeCherney 1, Solji Park 1,*,† and Erin F. Wolff 1,4,† 1 Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA; [email protected] (M.W.H.); [email protected] (S.N.D.); [email protected] (A.H.D.); [email protected] (E.F.W.) 2 Department of Obstetrics and Gynecology, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA 3 Trans-NIH Shared Resource on Biomedical Engineering and Physical Science, National Institute of Biomedical Imaging and Bioengineering, National Institutes of Health, Bethesda, MD 20892, USA; [email protected] (M.V.-W.); [email protected] (M.R.); [email protected] (A.R.T.); [email protected] (N.Y.M.) 4 Pelex, Inc., McLean, VA 22101, USA * Correspondence: [email protected] † Solji Park and Erin F. Wolff are co-senior authors. Abstract: We hypothesized that the creation of a 3-dimensional ovarian follicle, with embedded gran- ulosa and theca cells, would better mimic the environment necessary to support early oocytes, both structurally and hormonally. Using a microfluidic system with controlled flow rates, 3-dimensional Citation: Healy, M.W.; Dolitsky, S.N.; two-layer (core and shell) capsules were created. The core consists of murine granulosa cells in Villancio-Wolter, M.; Raghavan, M.; 0.8 mg/mL collagen + 0.05% alginate, while the shell is composed of murine theca cells suspended Tillman, A.R.; Morgan, N.Y.; in 2% alginate. -
Oogenesis [PDF]
Oogenesis Dr Navneet Kumar Professor (Anatomy) K.G.M.U Dr NavneetKumar Professor Anatomy KGMU Lko Oogenesis • Development of ovum (oogenesis) • Maturation of follicle • Fate of ovum and follicle Dr NavneetKumar Professor Anatomy KGMU Lko Dr NavneetKumar Professor Anatomy KGMU Lko Oogenesis • Site – ovary • Duration – 7th week of embryo –primordial germ cells • -3rd month of fetus –oogonium • - two million primary oocyte • -7th month of fetus primary oocyte +primary follicle • - at birth primary oocyte with prophase of • 1st meiotic division • - 40 thousand primary oocyte in adult ovary • - 500 primary oocyte attain maturity • - oogenesis completed after fertilization Dr Navneet Kumar Dr NavneetKumar Professor Professor (Anatomy) Anatomy KGMU Lko K.G.M.U Development of ovum Oogonium(44XX) -In fetal ovary Primary oocyte (44XX) arrest till puberty in prophase of 1st phase meiotic division Secondary oocyte(22X)+Polar body(22X) 1st phase meiotic division completed at ovulation &enter in 2nd phase Ovum(22X)+polarbody(22X) After fertilization Dr NavneetKumar Professor Anatomy KGMU Lko Dr NavneetKumar Professor Anatomy KGMU Lko Dr Navneet Kumar Dr ProfessorNavneetKumar (Anatomy) Professor K.G.M.UAnatomy KGMU Lko Dr NavneetKumar Professor Anatomy KGMU Lko Maturation of follicle Dr NavneetKumar Professor Anatomy KGMU Lko Maturation of follicle Primordial follicle -Follicular cells Primary follicle -Zona pallucida -Granulosa cells Secondary follicle Antrum developed Ovarian /Graafian follicle - Theca interna &externa -Membrana granulosa -Antrial -
MECHANISMS in ENDOCRINOLOGY: Novel Genetic Causes of Short Stature
J M Wit and others Genetics of short stature 174:4 R145–R173 Review MECHANISMS IN ENDOCRINOLOGY Novel genetic causes of short stature 1 1 2 2 Jan M Wit , Wilma Oostdijk , Monique Losekoot , Hermine A van Duyvenvoorde , Correspondence Claudia A L Ruivenkamp2 and Sarina G Kant2 should be addressed to J M Wit Departments of 1Paediatrics and 2Clinical Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, Email The Netherlands [email protected] Abstract The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in hormone signalling, paracrine factors, matrix molecules, intracellular pathways, and fundamental cellular processes, followed by chromosomal aberrations including copy number variants (CNVs) and imprinting disorders associated with short stature. Many novel causes of GH deficiency (GHD) as part of combined pituitary hormone deficiency have been uncovered. The most frequent genetic causes of isolated GHD are GH1 and GHRHR defects, but several novel causes have recently been found, such as GHSR, RNPC3, and IFT172 mutations. Besides well-defined causes of GH insensitivity (GHR, STAT5B, IGFALS, IGF1 defects), disorders of NFkB signalling, STAT3 and IGF2 have recently been discovered. Heterozygous IGF1R defects are a relatively frequent cause of prenatal and postnatal growth retardation. TRHA mutations cause a syndromic form of short stature with elevated T3/T4 ratio. Disorders of signalling of various paracrine factors (FGFs, BMPs, WNTs, PTHrP/IHH, and CNP/NPR2) or genetic defects affecting cartilage extracellular matrix usually cause disproportionate short stature. -
Mutations in C-Natriuretic Peptide (NPPC): a Novel Cause of Autosomal Dominant Short Stature
© American College of Medical Genetics and Genomics ORIGINAL RESEARCH ARTICLE Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature Alfonso Hisado-Oliva, PhD1,2,3, Alba Ruzafa-Martin, MSc1, Lucia Sentchordi, MD, MSc1,3,4, Mariana F.A. Funari, MSc5, Carolina Bezanilla-López, MD6, Marta Alonso-Bernáldez, MSc1, Jimena Barraza-García, MD, MSc1,2,3, Maria Rodriguez-Zabala, MSc1, Antonio M. Lerario, MD, PhD7,8, Sara Benito-Sanz, PhD1,2,3, Miriam Aza-Carmona, PhD1,2,3, Angel Campos-Barros, PhD1,2, Alexander A.L. Jorge, MD, PhD5,7 and Karen E. Heath, PhD1,2,3 Purpose: C-type natriuretic peptide (CNP) and its principal receptor, reductions in cyclic guanosine monophosphate synthesis, confirming natriuretic peptide receptor B (NPR-B), have been shown to be their pathogenicity. Interestingly,onehasbeenpreviouslylinkedto important in skeletal development. CNP and NPR-B are encoded by skeletal abnormalities in the spontaneous Nppc mouse long-bone natriuretic peptide precursor-C (NPPC) and natriuretic peptide receptor abnormality (lbab)mutant. NPR2 NPR2 2( ) genes, respectively. While mutations have been Conclusions: Our results demonstrate, for the first time, that NPPC describedinpatientswithskeletaldysplasias and idiopathic short stature mutations cause autosomal dominant short stature in humans. The (ISS), and several Npr2 and Nppc skeletal dysplasia mouse models exist, NPPC NPPC mutations cosegregated with a short stature and small hands no mutations in have been described in patients to date. phenotype. A CNP analog, which is currently in clinical trials for the Methods: NPPC was screened in 668 patients (357 with dispro- treatment of achondroplasia, seems a promising therapeutic approach, portionate short stature and 311 with autosomal dominant ISS) and 29 since it directly replaces the defective protein. -
Diagnostic Evaluation of the Infertile Female: a Committee Opinion
Diagnostic evaluation of the infertile female: a committee opinion Practice Committee of the American Society for Reproductive Medicine American Society for Reproductive Medicine, Birmingham, Alabama Diagnostic evaluation for infertility in women should be conducted in a systematic, expeditious, and cost-effective manner to identify all relevant factors with initial emphasis on the least invasive methods for detection of the most common causes of infertility. The purpose of this committee opinion is to provide a critical review of the current methods and procedures for the evaluation of the infertile female, and it replaces the document of the same name, last published in 2012 (Fertil Steril 2012;98:302–7). (Fertil SterilÒ 2015;103:e44–50. Ó2015 by American Society for Reproductive Medicine.) Key Words: Infertility, oocyte, ovarian reserve, unexplained, conception Use your smartphone to scan this QR code Earn online CME credit related to this document at www.asrm.org/elearn and connect to the discussion forum for Discuss: You can discuss this article with its authors and with other ASRM members at http:// this article now.* fertstertforum.com/asrmpraccom-diagnostic-evaluation-infertile-female/ * Download a free QR code scanner by searching for “QR scanner” in your smartphone’s app store or app marketplace. diagnostic evaluation for infer- of the male partner are described in a Pregnancy history (gravidity, parity, tility is indicated for women separate document (5). Women who pregnancy outcome, and associated A who fail to achieve a successful are planning to attempt pregnancy via complications) pregnancy after 12 months or more of insemination with sperm from a known Previous methods of contraception regular unprotected intercourse (1). -
The Reproductive System
PowerPoint® Lecture Slides prepared by Meg Flemming Austin Community College C H A P T E R 19 The Reproductive System © 2013 Pearson Education, Inc. Chapter 19 Learning Outcomes • 19-1 • List the basic components of the human reproductive system, and summarize the functions of each. • 19-2 • Describe the components of the male reproductive system; list the roles of the reproductive tract and accessory glands in producing spermatozoa; describe the composition of semen; and summarize the hormonal mechanisms that regulate male reproductive function. • 19-3 • Describe the components of the female reproductive system; explain the process of oogenesis in the ovary; discuss the ovarian and uterine cycles; and summarize the events of the female reproductive cycle. © 2013 Pearson Education, Inc. Chapter 19 Learning Outcomes • 19-4 • Discuss the physiology of sexual intercourse in males and females. • 19-5 • Describe the age-related changes that occur in the reproductive system. • 19-6 • Give examples of interactions between the reproductive system and each of the other organ systems. © 2013 Pearson Education, Inc. Basic Reproductive Structures (19-1) • Gonads • Testes in males • Ovaries in females • Ducts • Accessory glands • External genitalia © 2013 Pearson Education, Inc. Gametes (19-1) • Reproductive cells • Spermatozoa (or sperm) in males • Combine with secretions of accessory glands to form semen • Oocyte in females • An immature gamete • When fertilized by sperm becomes an ovum © 2013 Pearson Education, Inc. Checkpoint (19-1) 1. Define gamete. 2. List the basic components of the reproductive system. 3. Define gonads. © 2013 Pearson Education, Inc. The Scrotum (19-2) • Location of primary male sex organs, the testes • Hang outside of pelvic cavity • Contains two chambers, the scrotal cavities • Wall • Dartos, a thin smooth muscle layer, wrinkles the scrotal surface • Cremaster muscle, a skeletal muscle, pulls testes closer to body to ensure proper temperature for sperm © 2013 Pearson Education, Inc. -
Reproductive Cycles in Females
MOJ Women’s Health Review Article Open Access Reproductive cycles in females Abstract Volume 2 Issue 2 - 2016 The reproductive system in females consists of the ovaries, uterine tubes, uterus, Heshmat SW Haroun vagina and external genitalia. Periodic changes occur, nearly every one month, in Faculty of Medicine, Cairo University, Egypt the ovary and uterus of a fertile female. The ovarian cycle consists of three phases: follicular (preovulatory) phase, ovulation, and luteal (postovulatory) phase, whereas Correspondence: Heshmat SW Haroun, Professor of the uterine cycle is divided into menstruation, proliferative (postmenstrual) phase Anatomy and Embryology, Faculty of Medicine, Cairo University, and secretory (premenstrual) phase. The secretory phase of the endometrium shows Egypt, Email [email protected] thick columnar epithelium, corkscrew endometrial glands and long spiral arteries; it is under the influence of progesterone secreted by the corpus luteum in the ovary, and is Received: June 30, 2016 | Published: July 21, 2016 an indicator that ovulation has occurred. Keywords: ovarian cycle, ovulation, menstrual cycle, menstruation, endometrial secretory phase Introduction lining and it contains the uterine glands. The myometrium is formed of many smooth muscle fibres arranged in different directions. The The fertile period of a female extends from the age of puberty perimetrium is the peritoneal covering of the uterus. (11-14years) to the age of menopause (40-45years). A fertile female exhibits two periodic cycles: the ovarian cycle, which occurs in The vagina the cortex of the ovary and the menstrual cycle that happens in the It is the birth and copulatory canal. Its anterior wall measures endometrium of the uterus. -
Current Understanding on the Molecular Basis of Chondrogenesis
Clin Pediatr Endocrinol 2014; 23(1), 1–8 Copyright© 2014 by The Japanese Society for Pediatric Endocrinology Review Article Current Understanding on the Molecular Basis of Chondrogenesis Toshimi Michigami1 1 Department of Bone and Mineral Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan Abstract. Endochondral bone formation involves multiple steps, consisting of the condensation of undifferentiated mesenchymal cells, proliferation and hypertrophic differentiation of chondrocytes, and then mineralization. To date, various factors including transcription factors, soluble mediators, extracellular matrices (ECMs), and cell-cell and cell-matrix interactions have been identified to regulate this sequential, complex process. Moreover, recent studies have revealed that epigenetic and microRNA-mediated mechanisms also play roles in chondrogenesis. Defects in the regulators for the development of growth plate cartilage often cause skeletal dysplasias and growth failure. In this review article, I will describe the current understanding concerning the regulatory mechanisms underlying chondrogenesis. Key words: chondrocyte, transcription factors, growth factors, extracellular matrix, differentiation Introduction plates, and are characterized by the expression of type II, IX, and XI collagen (Col II, IX and In mammals, most of the skeleton including XI) and proteoglycans such as aggrecan. the long bones of the limbs and the vertebral When chondrocytes differentiate, they become columns is formed through endochondral bone hypertrophic and begin to produce a high level formation, which consists of the mesenchymal of alkaline phosphatase and type X collagen (Col condensation of undifferentiated cells, X). Eventually, the terminally differentiated proliferation of chondrocytes and differentiation chondrocytes undergo apoptosis, and the into hypertrophic chondrocytes, followed by cartilaginous matrix is mineralized and replaced mineralization (1–3). -
Evaluation of the Infertile Female
REVIEW ARTICLE Indian Journal of Clinical Practice, Vol. 31, No. 1, June 2020 Evaluation of the Infertile Female GARIMA KACHHAWA*, ANJU SINGH* ABSTRACT Infertility is defined as failure to conceive after 1 year of regular unprotected intercourse and is estimated to affect 10-15% of couples worldwide. Evaluation of the female partner is started if she fails to achieve pregnancy after 12 months or more of regular unprotected intercourse. This article provides a comprehensive review of the evaluation of a woman with infertility. We discuss the history and physical examination, evaluation of ovulatory function, tubal and peritoneal factors, uterine factors, cervical factors and ovarian reserve testing in detail. Keywords: Female infertility, ovulatory dysfunction, uterine factors, tubal and peritoneal factors, cervical factors, ovarian reserve test, basal body temperature nfertility is defined as failure to conceive after 1 year HISTORY AND EXAMINATION of regular unprotected intercourse. It affects 10-15% of couples worldwide. Female factor is responsible Both the partners should be made aware of underlying I causes of infertility, components of basic evaluation and for infertility in 35-40% of couples. Among females, the major causes of infertility include ovulatory encouraged for simultaneous testing. dysfunction (30-40%), tubal and peritoneal pathology Diagnostic evaluation should begin with thorough (30-40%), cervical factor (3%), uterine factor (rare) and history and physical examination. History taking of unexplained (10%) (Fig. 1). infertile partner must include the following: Usually, we start evaluation of female partner if she fails  Duration of infertility and results of any previous to achieve pregnancy after 12 months or more of regular evaluation/treatment unprotected intercourse. -
Discover Dysplasias Gene Panel
Discover Dysplasias Gene Panel Discover Dysplasias tests 109 genes associated with skeletal dysplasias. This list is gathered from various sources, is not designed to be comprehensive, and is provided for reference only. This list is not medical advice and should not be used to make any diagnosis. Refer to lab reports in connection with potential diagnoses. Some genes below may also be associated with non-skeletal dysplasia disorders; those non-skeletal dysplasia disorders are not included on this list. Skeletal Disorders Tested Gene Condition(s) Inheritance ACP5 Spondyloenchondrodysplasia with immune dysregulation (SED) AR ADAMTS10 Weill-Marchesani syndrome (WMS) AR AGPS Rhizomelic chondrodysplasia punctata type 3 (RCDP) AR ALPL Hypophosphatasia AD/AR ANKH Craniometaphyseal dysplasia (CMD) AD Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy ARSB syndrome AR ARSE Chondrodysplasia punctata XLR Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) B3GALT6 Ehlers-Danlos syndrome progeroid type 2 (EDSP2) AR Multiple joint dislocations, short stature and craniofacial dysmorphism with B3GAT3 or without congenital heart defects (JDSCD) AR Spondyloepimetaphyseal dysplasia (SEMD) Thoracic aortic aneurysm and dissection (TADD), with or without additional BGN features, also known as Meester-Loeys syndrome XL Short stature, facial dysmorphism, and skeletal anomalies with or without BMP2 cardiac anomalies AD Acromesomelic dysplasia AR Brachydactyly type A2 AD BMPR1B Brachydactyly type A1 AD Desbuquois dysplasia CANT1 Multiple epiphyseal dysplasia (MED) AR CDC45 Meier-Gorlin syndrome AR This list is gathered from various sources, is not designed to be comprehensive, and is provided for reference only. This list is not medical advice and should not be used to make any diagnosis. -
Correlating Female Alpaca Behavioral Receptivity with Cervical Relaxation and Ovarian Follicle Growth Caitlin Donovan May 2011
Correlating Female Alpaca Behavioral Receptivity with Cervical Relaxation and Ovarian Follicle Growth Caitlin Donovan May 2011 Introduction The alpaca -a member of the Camelidae family along with the Old World bactrian and dromedary camels and the New World guanacos, vicunas, and llamas - is a species that has little information available regarding its reproductive physiology. Although the alpaca is traditionally found in the Andes Mountains of South America at high elevations, used primarily for fleece and meat, the popularity of the species has spread around the world. Specifically, in the United States, the alpaca industry primarily revolves around reproduction, so it is essential that breeders have a firm grasp on the physiology of camelid reproduction in order to maximize profit. Camelids are induced ovulators – therefore, the act of copulation is what stimulates the LH surge that results in ovulation, unlike many other livestock species that have regular estrous cycles without the need for copulation. Furthermore, the act of a natural mating is solely dictated on the behavioral response of the female (Bravo and Sumar, 1989). When the female is receptive, she assumes sternal recumbency, also known as kushing, where she drops to the ground in order to allow the male to penetrate. In order to be receptive, it is assumed that the female has an ovarian follicle of at least 6-7 mm in diameter to produce enough estrogen to result in receptivity (Vaughan et al., 2003), but sexual receptivity in the female does not always mean that there is an ovarian follicle present that contains an oocyte with high fertilization potential (Bravo et al., 1991).