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Dissertations / Theses on the topic 'Heterozygotes'

Author: Grafiati

Published: 4 June 2021

Last updated: 21 February 2023

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1

GAY, PHILIPPE. "Etude de l'erythropoietine au cours des thalassemies heterozygotes." Aix-Marseille 2, 1992. http://www.theses.fr/1992AIX20193.

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2

Rowe, Steven M., Cori Daines, Felix C. Ringshausen, Eitan Kerem, John Wilson, Elizabeth Tullis, Nitin Nair, et al. "Tezacaftor–Ivacaftor in Residual-Function Heterozygotes with Cystic Fibrosis." MASSACHUSETTS MEDICAL SOC, 2017. http://hdl.handle.net/10150/626280.

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BACKGROUND Cystic fibrosis is an autosomal recessive disease caused by mutations in the CFTR gene that lead to progressive respiratory decline. Some mutant CFTR proteins show residual function and respond to the CFTR potentiator ivacaftor in vitro, whereas ivacaftor alone does not restore activity to Phe508del mutant CFTR. METHODS We conducted a randomized, double-blind, placebo-controlled, phase 3, crossover trial to evaluate the efficacy and safety of ivacaftor alone or in combination with tezacaftor, a CFTR corrector, in 248 patients 12 years of age or older who had cystic fibrosis and were

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3

Sousa, Ribeiro Maria Leticia de. "ß-Thalassemia and HB lepore heterozygotes: phenotype-genotype correlation." [Maastricht : Maastricht : Universiteit Maastricht] ; University Library, Maastricht University [Host], 1997. http://arno.unimaas.nl/show.cgi?fid=5822.

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4

Lebea, Phiyani Justice 1974. "Molecular characterisation of suspected heterozygotes of trimethylaminuria / Phiyani Justice Lebea." Thesis, Potchefstroom University for Christian Higher Education, 2002. http://hdl.handle.net/10394/13595.

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Trimethylaminuria (McKusick 602079) or Fish odour syndrome is inherited recessively as a defect in hepatic nitrogen-oxidation of dietary derived trimethylamine (TMA), which causes excess excretion of trimethylamine such that affected individuals have a body odour reminiscent of rotten fish (Zhang et al., 1995). Trimethylaminuria is a result of either partial or total incapacity to oxygenate trimethylarninuria to its oxide, trimethylamine oxide (TMAO), by an enzyme known as the flavin-containing monooxygenase 3 (FM03). Mutations in the gene of the major human liver enzyme isoform, FM03, are res

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5

Jansen, Natalie R. "Comparison of Health-Related Quality of Life Between Heterozygous Women with Fabry Disease, the General Population, and Patients with Chronic Disease." University of Cincinnati / OhioLINK, 2005. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1109182046.

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6

Skjönsberg, Åsa. "Hereditary susceptibility to inner ear stress agents studied in heterozygotes of the German waltzing guinea pig /." Stockholm, 2006. http://diss.kib.ki.se/2006/91-7140-817-7/.

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7

MARISSAL, CARBONNIER CATHERINE. "Depistage des heterozygotes pour le bloc de la 21 hydroxylase dans une population de femmes adultes hirsutes." Lille 2, 1988. http://www.theses.fr/1988LIL2M001.

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8

Zhang, Mingcai. "The Role of New Mutations in Evolution: Identifying the Deleterious Effect of Heterozygotes and the Beneficial Effect on Adaptation to Salt-Stressed Environments in Drosophila Melanogaster." Bowling Green State University / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=bgsu1276892040.

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9

Yardin, Marie Roseline, of Western Sydney Hawkesbury University, Faculty of Science and Technology, and School of Science. "Genetic variation in Anadara trapezia (Sydney cockle) : implications for the recruitment of marine organisms." THESIS_FST_SS_Yardin_M.xml, 1997. http://handle.uws.edu.au:8081/1959.7/56.

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This project investigated the genetic composition of natural populations of Anadara trapezia in Australia at three spatial scales : i) microgeographic (within an estuary, 50 metres to ~ 6 kilometres); ii) microgeographic (within populations, less than 50 metres); and, iii) macrogeographic (hundreds of kilometres along the coast of Australia). Allozyme polymorphism surveys using cellulose acetate strips have revealed, from 43 enzymes screened, 18 putative polymorphic loci. Comparisons of levels of heterozygosity among enzyme structural groups showed no significant differences, however, monomers

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10

HADJ, SAHRAOUI NADIA. "Processus involutifs affectant les cellules de purkinje au cours du vieillissement chez deux mutants neurologiques : les souris heterozygotes staggerer (+/sg) et reeler (+/rl)." Paris 6, 1996. http://www.theses.fr/1996PA066779.

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La perte des neurones est consideree comme une des principales causes de la deterioration des fonctions du systeme nerveux central au cours du vieillissement. Cependant, les preuves experimentales d'une diminution du nombre des neurones au cours du vieillissement dit normal en particulier chez l'homme peuvent etre sujettes a caution tant a cause des methodes de comptage cellulaire utilisees qu'en raison de pathologies associees non evidentes. Un autre facteur pourrait jouer un role essentiel dans la variabilite des resultats de la litterature a savoir l'heterogeneite genetique des populations

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11

Gonçalves, Rafaelle Ribeiro. "ESTRUTURA GENÉTICA DE POPULAÇÕES NATURAIS DE Parides agavus (LEPIDOPTERA; PAPILIONIDAE) DA REGIÃO CENTRAL DO RIO GRANDE DO SUL, BRASIL." Universidade Federal de Santa Maria, 2007. http://repositorio.ufsm.br/handle/1/11175.

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The population structure from the genetic and evolutive view-point tries to quantify the morphologic and quantitative variability existing among the individuals, their reproductive behavior, and gene flow patterns, and the adaptative strategies to the local environment. The present study had as objective to describe the genetic population structure and the genetic variability found in natural populations of Parides agavus Santa Maria region. For the study it was utilized polyacrylamide gel electrophoresis, for isozymes. Eighty-eight P. agavus adult individuals were collected in three localitie

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12

Pinto, Louise Lapagesse de Camargo. "Avaliação de manifestações clínicas e laboratoriais em heterozigotas para mucopolissacridose tipo II." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2009. http://hdl.handle.net/10183/19093.

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Introdução: A maioria das doenças lisossômicas são herdadas como traços recessivos, mas a mucopolissacaridose tipo II (MPS II) é de herança ligada ao cromossomo X. As doenças ligadas ao cromossomo X possuem um importante impacto para as famílias devido ao risco que as heterozigotas apresentam em ter um filho afetado. A maioria das heterozigotas para as doenças ligadas ao cromossomo X são clinicamente assintomáticas. Em relação à MPS II somente dez mulheres afetadas foram relatadas na literatura. Entretanto, nenhum estudo foi realizado para a avaliação da presença de sinais sutis da doença ness

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13

Huppmann, Marceline. "Lungenmechanische Charakterisierung von heterozygoten ABCA3-Knockout-Mäusen." Diss., lmu, 2011. http://nbn-resolving.de/urn:nbn:de:bvb:19-133099.

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14

Müller, Eva. "Klinische und funktionelle Charakterisierung einer stark wachstumsretardierten Patientin mit einer zusammengesetzten heterozygoten Pericentrinmutation und einer heterozygoten IGF1-Rezeptor Mutation." Doctoral thesis, Universitätsbibliothek Leipzig, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-131321.

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Die menschliche Entwicklung ist charakterisiert durch ein rasches fetales Wachstum, ein langsames postnatales Wachstum, ein kontinuierliches Wachstum im Laufe der Kindheit sowie einen Wachstumsschub während der Pubertät. In den letzten Jahren wurde gezeigt, dass Mutationen in den Genen des Pericentrins (PCNT) und des Insulin-like growth factor-1 Rezeptors (Insulin ähnlicher Wachstumsfaktor Typ 1 Rezeptor, IGF1R) seltene Auslöser von prä- und postnataler Wachstumsrestriktion darstellen können. In dieser Arbeit wird eine stark wachstumsretardierte Patientin mit zusammengesetzter heterozygoter PC

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15

Price, Jared Calvin. "The Bioluminescence Heterozygous Genome Assembler." BYU ScholarsArchive, 2014. https://scholarsarchive.byu.edu/etd/4346.

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High-throughput DNA sequencing technologies are currently revolutionizing the fields of biology and medicine by elucidating the structure and function of the components of life. Modern DNA sequencing machines typically produce relatively short reads of DNA which are then assembled by software in an attempt to produce a representation of the entire genome. Due to the complex structure of all but the smallest genomes, especially the abundant presence of exact or almost exact repeats, all genome assemblers introduce errors into the final sequence and output a relatively large set of contigs inste

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16

Willer, Mario. "Molekulargenetische Untersuchungen zur Expression von Sequenzveränderungen im REP-1-Gen bei heterozygoten Trägerinnen." kostenfrei, 2008. http://www.opus-bayern.de/uni-regensburg/volltexte/2009/1179/.

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17

Foucher, Karine. "Rôle de la mutation H63D du gène HFE : étude comparative de 83 sujets hétérozygotes composites C282Y/H63D et de 52 hétérozygotes simples C282Y." Montpellier 1, 1999. http://www.theses.fr/1999MON11132.

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18

Maier, Esther Maria. "X-Inaktivierung bei heterozygoten Überträgerinnen X-chromosomal gebundener Adrenoleukodystrophie." Diss., lmu, 2002. http://nbn-resolving.de/urn:nbn:de:bvb:19-1606.

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19

Bailey, K. J. "Control of photosynthesis by PEP carboxylase in leaves of Amaranthus edulis." Thesis, University of Sheffield, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.284761.

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20

Miyoshi, Hiroyuki. "Gastrointestinal hamartomatous polyposis in Lkb1 heterozygous knockout mice." Kyoto University, 2003. http://hdl.handle.net/2433/148260.

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21

Schatz, Stephanie. "X-Inaktivierung bei heterozygoten Patientinnen bezüglich X-chromosomal vererbtem Morbus Fabry." Diss., lmu, 2012. http://nbn-resolving.de/urn:nbn:de:bvb:19-149332.

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22

Craigie, Eilidh. "Investigating mechanisms of salt-sensitive hypertension in 11β-HSD2 heterozygote mice". Thesis, University of Edinburgh, 2011. http://hdl.handle.net/1842/5565.

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The mineralocorticoid hormone, aldosterone, classically acts via the Mineralocorticoid Receptor (MR) to promote sodium transport in aldosterone target tissues, such as the kidney, thereby controlling long-term electrolyte homeostasis and blood pressure (BP). Aldosterone biosynthesis by the adrenal gland is regulated by a negative feedback loop called the Renin Angiotensin Aldosterone System (RAAS). The glucocorticoid cortisol (corticosterone in rodents), which has a very similar structure to aldosterone, shares with aldosterone an equal affinity for the MR. Typically, plasma cortisol levels ar

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23

GIRARD, VALERIE. "Expression du genotype 10 kb dans l'hypercholesterolemie familiale heterozygote au quebec." Besançon, 1992. http://www.theses.fr/1992BESA3054.

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24

Dupin, André. "Zur Transglutaminase-Aktivität der Untereinheit A des Faktor XIII in plättchenarmem und plättchenreichem Plasma sowie in Thrombozytenkonzentraten bei Patienten mit heterozygotem, doppelt heterozygotem und homozygotem Faktor-XIII-Mangel." [S.l.] : [s.n.], 2004. http://archiv.ub.uni-marburg.de/diss/z2004/0395/.

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25

Wallborn, Tillmann. "Klinisches Erscheinungsbild und zugrundeliegende molekularbiologische Mechanismen der heterozygoten V599E-IGF-I Rezeptormutation." Doctoral thesis, Universitätsbibliothek Leipzig, 2012. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-90100.

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Untersuchungen haben gezeigt, dass unterdurchschnittlich leichte Neugeborene für zahlreiche Erkrankungen ein erhöhtes Risiko tragen. Beschrieben ist unter anderem das vermehrte Auftreten psychosozialer Probleme sowie metabolischer und kardiovaskulärer Spätfolgen. Inzwischen sind zahlreiche mögliche Ursachen einer intrauterinen und postnatalen Wachstumsretardierung beschrieben worden. Unter diesen Ursachen finden sich auch genetische Veränderungen von Proteinen der endokrinologischen Wachstumsregulierung. So wurden Mutationen im GH1 Gen, in Entwicklungsgenen von GH produzierenden Zellen, im IGF

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26

Flemming, Gunter. "Funktionelle Charakterisierung heterozygoter GLI2 missense Mutationen bei Patienten mit multiplem hypophysären Hormonmangel." Doctoral thesis, Universitätsbibliothek Leipzig, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-130953.

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Der GLI2-Transkriptionsfaktor ist eines der Haupt Effektor-Proteine des Sonic Hedgehog (SHH)-Signalweges und hat vermutlich eine Schlüsselfunktion in der Entwicklung der Hypophyse. Genomische GLI2-Veränderungen welche zu abgeschnittenen Proteinen führten, wurden beschrieben als Ursache für Holoprosenzephalie (HPE) oder HPE-ähnliche Veränderungen, teilweise in Verbindung mit einer Hypophysenunterfunktion. Ziel dieser Arbeit war die Ermittlung der Frequenz von GLI2-Mutationen in Patienten mit multiplem hypophysärem Hormonausfall (multiple pituitary hormone deficiency, MPHD) und eine funktionell

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27

Schäfer, Sabine [Verfasser]. "Testikuläre Teratome in AP-2γ heterozygoten Mäusen / Sabine Schäfer. Mathematisch-Naturwissenschaftliche Fakultät". Bonn : Universitäts- und Landesbibliothek Bonn, 2011. http://d-nb.info/1018373462/34.

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28

Hood, S. M. "Colour perception in females heterozygous for a colour deficiency." Thesis, University of Cambridge, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.604207.

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Initial experiments examine the performance of heterozygous females on standard tests of colour vision. The results of these tests do not provide convincing evidence to support the hypothesis that carriers share in the colour deficiencies of their fathers and sons. Colour vision is thought to depend upon two subsystems that remain parallel and independent in the early stages of visual processing. I examine the relative organizing power of these two subsystems and find that carriers of a colour deficiency cannot be considered as one population. For small element separations, the relative organi

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29

GIORDANO, FRANCOISE. "Maladie de fabry : forme heterozygote d'expression differente chez deux soeurs jumelles monozygotes." Toulouse 3, 1989. http://www.theses.fr/1989TOU31535.

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30

Lasica, Rick, and Ashley Loy. "Cost-Effectiveness Analysis of PCSK9 Inhibitors for the Treatment of Heterozygous Familial Hypercholesterolemia." The University of Arizona, 2017. http://hdl.handle.net/10150/624203.

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Class of 2017 Abstract<br>Objectives: To determine the cost-effectiveness of proprotein convertase subtilisin kexin 9 (PCSK9) inhibitors with high-intensity statins compared to high-intensity statins alone for the treatment of heterozygous familial hypercholesterolemia (HeFH). Methods: A Markov model was built through TreeAge Pro to model two groups: patients taking PCSK9 inhibitors with high-intensity statins or high-intensity statins alone. For each group, there were five health states that patients could be in: well, unstable angina, myocardial infarction, ischemic stroke, or death. The da

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31

Müller, Eva [Verfasser], Wieland [Akademischer Betreuer] Kiess, Jürgen [Akademischer Betreuer] Klammt, Roland [Gutachter] Pfäffle, and Jürgen [Gutachter] Kratzsch. "Klinische und funktionelle Charakterisierung einer stark wachstumsretardierten Patientin mit einer zusammengesetzten heterozygoten Pericentrinmutation und einer heterozygoten IGF1-Rezeptor Mutation. / Eva Müller ; Gutachter: Roland Pfäffle, Jürgen Kratzsch ; Wieland Kiess, Jürgen Klammt." Leipzig : Universitätsbibliothek Leipzig, 2014. http://d-nb.info/1238599869/34.

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32

Huppmann, Marceline [Verfasser], and Andreas W. [Akademischer Betreuer] Flemmer. "Lungenmechanische Charakterisierung von heterozygoten ABCA3-Knockout-Mäusen / Marceline Huppmann. Betreuer: Andreas W. Flemmer." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2011. http://d-nb.info/1015169775/34.

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33

Le, Gallais Daniel. "L'aptitude physique des porteurs du trait drépanocytaire." Montpellier 1, 1990. http://www.theses.fr/1990MON14002.

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34

Souweine, Bertrand. "Beta thalassemie heterozygote et grossesse : a propos d'une enquete effectuee en haute-corse." Aix-Marseille 2, 1988. http://www.theses.fr/1988AIX20529.

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35

Fritz, Andrea Maria. "Langzeiteinfluss der früh-postnatalen Ernährung auf den Körperfettgehalt von adulten Wildtyp- und heterozygoten Zuckerratten." Wettenberg : VVB Laufersweiler, 2005. http://deposit.ddb.de/cgi-bin/dokserv?idn=974923052.

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36

Hitzegrad, Anna [Verfasser]. "Familiäres-Mittelmeerfieber-Patienten mit heterozygotem Genotyp: eine Patientengruppe mit einem milderen Verlaufsprofil / Anna Hitzegrad." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2018. http://d-nb.info/1170877044/34.

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37

Ribeiro, Leslie. "Characterization of the respiratory phenotype of the Late Gestation Lung 1 («Lgl1») heterozygote mouse." Thesis, McGill University, 2009. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=32607.

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Bronchopulmonary dysplasia (BPD), a disease characterized by an arrest in alveolar development, remains one of the leading causes of morbidity in very low birth weight newborns [1, 2]. Insight into the mechanisms and genes involved in alveolarization could be used to better understand the lung pathophysiology of this disease and help with the development of new treatment interventions. Lgl1, is a developmentally regulated, glucocorticoid induced, secreted glycoprotein in the lung [3]. In O2 toxicity anima

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38

Kongmanas, Kessiri. "Significance of sulfogalactosylglycerolipid in male fertility: Studies using Cgt heterozygous mice." Thesis, University of Ottawa (Canada), 2008. http://hdl.handle.net/10393/27996.

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Sulfogalactosylglycerolipid (SGG) is a sulfoglycolipid present specifically at a substantial level in mammalian male germ cells. It has been shown to function as an adhesion molecule important for sperm-egg interaction and a structural lipid involved in formation of sperm lipid rafts during capacitation in vitro. Due to the unique characteristics and functions, SGG can potentially serve as a biomarker for sperm fertility as well as a target for development of a non-hormonal contraceptive. To confirm the in vivo roles of SGG, we sought for transgenic mice with reduced amounts of sperm SGG. Cg

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39

Bankar, Girish. "Heterozygous rho kinase2 deficinecy increases whole body insulin sensitivity in mice." Thesis, University of British Columbia, 2013. http://hdl.handle.net/2429/44092.

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The incidence of obesity and type 2 diabetes is increasing worldwide. Impaired insulin sensitivity in peripheral tissues has been considered one of the major causes of whole body insulin resistance. Previous in vitro and in vivo studies have shown that the RhoA/ROCK pathway regulates the insulin signaling pathway. Two isoforms of Rho kinase (ROCK) have been identified, known as ROCK1 and ROCK2. It has recently been shown that in-vivo deletion of ROCK1 causes insulin resistance, whereas whether ROCK2 has a role in regulation of insulin sensitivity is unknown. In the current study, we investigat

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40

Castelo, Rueda Maria Paulina. "The role of mitochondria in reduced penetrance of heterozygous Parkin mutations." Doctoral thesis, Università degli studi di Trento, 2021. http://hdl.handle.net/11572/319705.

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Parkinson´s Disease (PD) is the most common neurodegenerative movement disorder, estimated to affect up to 2% of the population over 65 years of age (Lin et al., 2019; Santos et al., 2019). Parkin (PRKN) mutations are the most common known cause of autosomal recessive early-onset PD, accounting for up to 77% of cases with an age of onset ≤20 years (Lucking et al., 2000), and parkin dysfunction represents a risk factor for sporadic PD (Dawson & Dawson, 2014). Parkin variants have been identified in numerous families with different genetic backgrounds (Hedrich et al., 2004) and include more

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41

Harmel, Eva-Maria Sophia. "Klinisches Erscheinungsbild und funktionelle Charakterisierung eines Patienten mit einer heterozygoten Exon 6 Deletion im IGF1R." Doctoral thesis, Universitätsbibliothek Leipzig, 2015. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-163923.

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Hintergrund: Der Insulin-like growth factor receptor (IGF1R) spielt eine zentrale Rolle bei Wachstumsprozessen. Heterozygote IGF1R-Mutationen führen durch eine partielle IGF1-Resistenz zu Kleinwuchs. Methoden: Auxologische und endokrinologische Daten des Patienten wurden erhoben. Anhand von Fibroblasten wurde die IGF1R-Deletion charakterisiert und die Auswirkungen auf die mRNA- und Protein-Expression sowie die Signaltransduktion untersucht. Ergebnisse: Der Junge, der eine heterozygote Exon 6 Deletion im IGF1R – durch Alu-Rekombination verursacht – und eine heterozygote SHOX-Variante (p.Met24

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42

Grim, Travis. "Synthetic cannabinoids versus delta-9-tetrahydrocannabinol: abuse-related consequences of enhanced efficacy at the cannabinoid 1 receptor." VCU Scholars Compass, 2015. http://scholarscompass.vcu.edu/etd/4039.

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In the past ten years, synthetic cannabinoids (SC) have emerged as drugs of abuse. Unlike D9-tetrahydrocannabinol (THC), many SCs are associated with serious health complications and death. One way in which THC and SCs differ lies with their enhanced potency and efficacy at the CB1 receptor. No current methods exist to measure efficacy at the CB1 receptor in vivo, and the abuse-related properties of SC cannabinoids are not well explored. Here, we utilized CB1 wild type (WT), heterozygous (HET), and knockout (KO) mice. By employing CB1 ligands which differ in efficacy we have developed a method

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43

CHEMILA, CARENCO MARGUERITE. "Mycoplasmose pulmonaire grave associee a un deficit heterozygote en facteur vii : a propos d'une observation." Aix-Marseille 2, 1989. http://www.theses.fr/1989AIX20194.

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44

Wu, Pei-Chi Coleman Rosalind A. "Will absence of GPAT1 improve diet-induced atherosclerosis in ApoE heterozygous mice?" Chapel Hill, N.C. : University of North Carolina at Chapel Hill, 2008. http://dc.lib.unc.edu/u?/etd,1933.

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Thesis (M.S.)--University of North Carolina at Chapel Hill, 2008.<br>Title from electronic title page (viewed Dec. 11, 2008). "... in partial fulfillment of the requirement for the degree of Master of Science in the Department of Nutrition." Discipline: Nutrition; Department/School: Public Health.

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45

Wolf, Susanne. "Einfluss blutdrucksenkender Pharmaka auf die Ausbildung einer ARVC bei heterozygot plakoglobindefizienten Mäusen." Giessen VVB Laufersweiler, 2009. http://d-nb.info/996005285/04.

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46

Richters, Lisa Katharina [Verfasser]. "Morphologische, funktionelle und histochemische Untersuchungen zur trainingsinduzierten kardialen Adaptation heterozygoter MnSOD-Knockout-Mäuse / Lisa Katharina Richters." Köln : Deutsche Zentralbibliothek für Medizin, 2012. http://d-nb.info/1019659645/34.

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47

Schatz, Stephanie Verfasser], and Ania [Akademischer Betreuer] [Muntau. "X-Inaktivierung bei heterozygoten Patientinnen bezüglich X-chromosomal vererbtem Morbus Fabry / Stephanie Schatz. Betreuer: Ania Muntau." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2012. http://d-nb.info/1027949193/34.

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48

Mazur, Artur, Katrin Köhler, Markus Schülke, Mandy Skunde, Mariusz Ostański, and Angela Hübner. "Familial Glucocorticoid Deficiency Type 1 due to a Novel Compound Heterozygous MC2R Mutation." Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-134512.

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Objective: Description of the clinical, biochemical and genetic features of a Polish patient with familial glucocorticoid deficiency. Methods: Detailed clinical investigation, hormonal analysis and sequencing of the coding region of the melanocortin 2 receptor (MC2R) gene in this patient. Results: We report on a 3-month-old boy with familial glucocorticoid deficiency who presented at the age of 3 months with skin hyperpigmentation, muscle weakness, mild jaundice and constipation. Hormonal analyses revealed high ACTH and TSH serum concentrations, low serum cortisol concentration along with norm

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Mazur, Artur, Katrin Köhler, Markus Schülke, Mandy Skunde, Mariusz Ostański, and Angela Hübner. "Familial Glucocorticoid Deficiency Type 1 due to a Novel Compound Heterozygous MC2R Mutation." Karger, 2008. https://tud.qucosa.de/id/qucosa%3A27575.

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Objective: Description of the clinical, biochemical and genetic features of a Polish patient with familial glucocorticoid deficiency. Methods: Detailed clinical investigation, hormonal analysis and sequencing of the coding region of the melanocortin 2 receptor (MC2R) gene in this patient. Results: We report on a 3-month-old boy with familial glucocorticoid deficiency who presented at the age of 3 months with skin hyperpigmentation, muscle weakness, mild jaundice and constipation. Hormonal analyses revealed high ACTH and TSH serum concentrations, low serum cortisol concentration along with norm

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Khourieh, Joëlle. "Novel heterozygous STAT3 mutations clarify the molecular basis of the hyper IgE syndrome." Thesis, Sorbonne Paris Cité, 2018. https://wo.app.u-paris.fr/cgi-bin/WebObjects/TheseWeb.woa/wa/show?t=2177&f=15771.

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Abstract:

À ce jour, STAT3 est le seul gène pour lequel des mutations dans les régions codantes sont à l'origine du syndrome hyper-immunoglobuline E autosomique dominant (AD-HIES). Cependant, l'étiologie génétique de 5% des individus répondant aux critères cliniques pour l'AD-HIES reste inconnue. En combinant le séquençage de l'exome entier et l'analyse de liaison génétique, nous avons identifié la première mutation hétérozygote STAT3 intronique, c.1282-89C>T, causant l'AD-HIES chez sept patients de la même famille. Cette mutation crée un nouvel exon au niveau de l'ADNc de STAT3 (D427ins17). Nous avo

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