keyword
https://read.qxmd.com/read/34244228/characterizing-nucleotide-variation-and-expansion-dynamics-in-human-specific-variable-number-tandem-repeats
#21
JOURNAL ARTICLE
Meredith M Course, Arvis Sulovari, Kathryn Gudsnuk, Evan E Eichler, Paul N Valdmanis
There are more than 55,000 variable number tandem repeats (VNTRs) in the human genome, notable for both their striking polymorphism and mutability. Despite their role in human evolution and genomic variation, they have yet to be studied collectively and in detail, partially owing to their large size, variability, and predominant location in noncoding regions. Here, we examine 467 VNTRs that are human-specific expansions, unique to one location in the genome, and not associated with retrotransposons. We leverage publicly available long-read genomes, including from the Human Genome Structural Variant Consortium, to ascertain the exact nucleotide composition of these VNTRs and compare their composition of alleles...
August 2021: Genome Research
https://read.qxmd.com/read/34165428/the-prop1-like-homeobox-gene-unc-42-specifies-the-identity-of-synaptically-connected-neurons
#22
JOURNAL ARTICLE
Emily G Berghoff, Lori Glenwinkel, Abhishek Bhattacharya, HaoSheng Sun, Erdem Varol, Nicki Mohammadi, Amelia Antone, Yi Feng, Ken Nguyen, Steven J Cook, Jordan F Wood, Neda Masoudi, Cyril C Cros, Yasmin H Ramadan, Denise M Ferkey, David H Hall, Oliver Hobert
Many neuronal identity regulators are expressed in distinct populations of cells in the nervous system, but their function is often analyzed only in specific isolated cellular contexts, thereby potentially leaving overarching themes in gene function undiscovered. We show here that the Caenorhabditis elegans Prop1-like homeobox gene unc-42 is expressed in 15 distinct sensory, inter- and motor neuron classes throughout the entire C. elegans nervous system. Strikingly, all 15 neuron classes expressing unc-42 are synaptically interconnected, prompting us to investigate whether unc-42 controls the functional properties of this circuit and perhaps also the assembly of these neurons into functional circuitry...
June 24, 2021: ELife
https://read.qxmd.com/read/34124982/occurrence-of-hypopituitarism-in-tunisian-turner-syndrome-patients-familial-versus-sporadic-cases
#23
JOURNAL ARTICLE
M Mnif-Feki, W Safi, N Bougacha-Elleuch, G Abid, M Moalla, M Elleuch, D H Ben Salah, N Rekik, N Belguith, F Abdelhedi, T Kammoun, M Hachicha, N Charfi, F Mnif, H Kammoun, H Hadj Kacem, F Hadj-Kacem, M Abid
OBJECTIVE: To explore unusual association between Turner Syndrome (TS) and Hypopituitarism in a Tunisian cohort. METHODS: We reported 6 patients with TS associated to Hypopituitarism, including three familial cases except the fourth sister who showed only a TS phenotype. Biochemical analysis, resonance magnetic imaging and cytogenetic analyses were performed. RESULTS: The average age of our patients was 17.2 years (11-31 years). They were all referred for short stature and pubertal delay, except for the fourth sister who presented spontaneous puberty with the integrity of the pituitary axis and the presence of an X ring chromosome...
June 14, 2021: Gynecological Endocrinology
https://read.qxmd.com/read/33879944/aetiologies-and-clinical-patterns-of-hypopituitarism-in-sudanese-children
#24
JOURNAL ARTICLE
Samar S Hassan, Renson Mukhwana, Salwa Musa, Areej A B Ibrahim, Omer Babiker, Mohamed A Abdullah
There is paucity of reported information regarding aetiology and clinical profile of hypopituitarism from resource-limited countries particularly in populations with high rates of consanguineous marriages. Here, we are reporting the first data on this aspect from Sudan. This is a descriptive, retrospective, hospital-based study, carried out in the two main paediatric endocrinology centres in Sudan (Gafaar Ibn Auf Paediatric Tertiary Hospital and Soba University Hospital, Khartoum) from January 2006 up to December 2014...
2021: Sudanese Journal of Paediatrics
https://read.qxmd.com/read/33837405/pituitary-tumors-and-immortalized-cell-lines-generated-by-cre-inducible-expression-of-sv40-t-antigen
#25
JOURNAL ARTICLE
Alexandre Z Daly, Amanda H Mortensen, Hironori Bando, Sally A Camper
Targeted oncogenesis is the process of driving tumor formation by engineering transgenic mice that express an oncogene under the control of a cell-type specific promoter. Such tumors can be adapted to cell culture, providing immortalized cell lines. To make it feasible to follow the process of tumorigenesis and increase the opportunity for generating cell lines, we developed a mouse strain that expresses SV40 T antigens in response to Cre-recombinase. Using CRISPR/Cas9 we inserted a cassette with coding sequences for SV40 T antigens and an internal ribosome entry site with green fluorescent protein cassette (IRES-GFP) into the Rosa26 locus, downstream from a stop sequence flanked by loxP sites: Rosa26LSL-SV40-GFP...
July 1, 2021: Endocrinology
https://read.qxmd.com/read/33296094/nr5a1-c-991-1g-c-splice-site-variant-causes-familial-46-xy-partial-gonadal-dysgenesis-with-incomplete-penetrance
#26
JOURNAL ARTICLE
Maris Laan, Laura Kasak, Kęstutis Timinskas, Marina Grigorova, Česlovas Venclovas, Alexandre Renaux, Tom Lenaerts, Margus Punab
OBJECTIVE: The study aimed to identify the genetic basis of partial gonadal dysgenesis (PGD) in a non-consanguineous family from Estonia. PATIENTS: Cousins P (proband) 1 (12 years; 46,XY) and P2 (18 years; 46,XY) presented bilateral cryptorchidism, severe penoscrotal hypospadias, low bitesticular volume and azoospermia in P2. Their distant relative, P3 (30 years; 46,XY), presented bilateral cryptorchidism and cryptozoospermia. DESIGN: Exome sequencing was targeted to P1-P3 and five unaffected family members...
April 2021: Clinical Endocrinology
https://read.qxmd.com/read/33270637/pituitary-stalk-interruption-syndrome-is-characterized-by-genetic-heterogeneity
#27
JOURNAL ARTICLE
Raja Brauner, Joelle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey
Pituitary stalk interruption syndrome is a rare disorder characterized by an absent or ectopic posterior pituitary, interrupted pituitary stalk and anterior pituitary hypoplasia, as well as in some cases, a range of heterogeneous somatic anomalies. A genetic cause is identified in only around 5% of all cases. Here, we define the genetic variants associated with PSIS followed by the same pediatric endocrinologist. Exome sequencing was performed in 52 (33 boys and 19 girls), including 2 familial cases single center pediatric cases, among them associated 36 (69...
2020: PloS One
https://read.qxmd.com/read/33098107/clinical-lessons-learned-in-constitutional-hypopituitarism-from-two-decades-of-experience-in-a-large-international-cohort
#28
JOURNAL ARTICLE
Nicolas Jullien, Alexandru Saveanu, Julia Vergier, Emeline Marquant, Marie Helene Quentien, Frederic Castinetti, Noémie Galon-Faure, Raja Brauner, Zinet Marrakchi Turki, Maité Tauber, Mohamed El Kholy, Agnès Linglart, Patrice Rodien, Nora Soumeya Fedala, Ignacio Bergada, Christine Cortet-Rudelli, Michel Polak, Marc Nicolino, Chantal Stuckens, Anne Barlier, Thierry Brue, Rachel Reynaud
CONTEXT: The international GENHYPOPIT network collects phenotypical data and screens genetic causes of non-acquired hypopituitarism. AIMS: To describe main phenotype patterns and their evolution through life. DESIGN: Patients were screened according to their phenotype for coding sequence variations in 8 genes: HESX1, LHX3, LHX4, PROP1, POU1F1, TBX19, OTX2 and PROKR2. RESULTS: Among 1213 patients (1143 index cases), the age of diagnosis of hypopituitarism was congenital (24%), in childhood (28%), at puberty (32%), in adulthood (7...
February 2021: Clinical Endocrinology
https://read.qxmd.com/read/32894409/genetic-spectrum-and-predictors-of-mutations-in-four-known-genes-in-asian-indian-patients-with-growth-hormone-deficiency-and-orthotopic-posterior-pituitary-an-emphasis-on-regional-genetic-diversity
#29
JOURNAL ARTICLE
Shantanu Kale, Jugal V Gada, Swati Jadhav, Anurag R Lila, Vijaya Sarathi, Sweta Budyal, Hiren Patt, Manjunath R Goroshi, Puja M Thadani, Sneha Arya, Aparna A Kamble, Virendra A Patil, Shrikrishna Acharya, Shilpa Sankhe, Vyankatesh Shivane, Vijaya Raghavan, Tushar R Bandgar, Nalini S Shah
CONTEXT: Regional variation in prevalence of genetic mutations in growth hormone deficiency (GHD) is known. AIM: Study phenotype and prevalence of mutations in GH1, GHRHR, POU1F1, PROP1 genes in GHD cohort. METHODS: One hundred and two patients {Isolated GHD (IGHD): 79; combined pituitary hormone deficiency (CPHD): 23} with orthotopic posterior pituitary were included. Auxologic, hormonal and radiological details were studied. All four genes were analysed in IGHD patients...
December 2020: Pituitary
https://read.qxmd.com/read/32612575/sema3a-and-igsf10-are-novel-contributors-to-combined-pituitary-hormone-deficiency-cphd
#30
JOURNAL ARTICLE
Bartlomiej Budny, Tomasz Zemojtel, Malgorzata Kaluzna, Pawel Gut, Marek Niedziela, Monika Obara-Moszynska, Barbara Rabska-Pietrzak, Katarzyna Karmelita-Katulska, Marek Stajgis, Urszula Ambroziak, Tomasz Bednarczuk, Elzbieta Wrotkowska, Ewelina Bukowska-Olech, Aleksander Jamsheer, Marek Ruchala, Katarzyna Ziemnicka
Background: The mutation frequencies of pituitary transcription factors genes in patients with combined pituitary hormone deficiencies (CPHD) vary substantially between populations. However, apart from PROP1 the mutation rate of other genes is low and for almost half of the patients with CPHD the routine sequencing of known genes is unsuccessful in the identification of genetic causes. Methods: A cohort of 66 sporadic and nine familial CPHD cases (80 patients in total) were subjected to initial testing of the genes PROP1, POU1F1, LHX3, LHX4 , and HESX1 using a targeted gene panel and MLPA...
2020: Frontiers in Endocrinology
https://read.qxmd.com/read/32415500/hypopituitarism-in-five-prop1-mutation-siblings-long-lasting-natural-course-and-the-effects-of-growth-hormone-replacement-introduction-in-middle-adulthood
#31
JOURNAL ARTICLE
Mirjana Doknic, Vladimir Gasic, Marko Stojanovic, Sonja Pavlovic, Snezana Marinkovic, Dragana Miljic, Sandra Pekic, Emilija Manojlovic-Gacic, Dusan Damjanovic, Ivan Soldatovic, Milan Petakov
Twenty years after the first description of combined hypopituitarism (CPHD) caused by PROP1 mutations, the phenotype of affected subjects is still challenging for clinicians. These patients suffer from pituitary hormone deficits ranging from IGHD to panhypopituitarism. ACTH deficiency usually develops later in life. Pituitary size is variable. PROP1 mutation is the most frequent in familial congenital hypopituitarism (CH). Reports on initiation of hormonal replacement including growth hormone (GH) in adults with CH are scarce...
August 2020: Pituitary
https://read.qxmd.com/read/32319661/mutation-spectrum-analysis-of-29-causative-genes-in-43-chinese-patients-with-congenital-hypothyroidism
#32
JOURNAL ARTICLE
Huijuan Wang, Xiaohong Kong, Yanrui Pei, Xuemei Cui, Yijie Zhu, Zixuan He, Yanxia Wang, Lirong Zhang, Lixia Zhuo, Chao Chen, Xiaoli Yan
Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder with a genetic origin. The purpose of the present study was to analyze the mutation spectrum of CH patients in China. A targeted next‑generation sequencing panel covering all exons of 29 CH‑related causative genes was used in 43 Han Chinese patients with CH [11 dysgenesis and 32 glands in situ (GIS)]. The functional impact and pathogenicity of detected variants were analyzed using a comprehensive bioinformatics approach and co‑segregation studies...
July 2020: Molecular Medicine Reports
https://read.qxmd.com/read/32293991/a-novel-23-bp-indel-mutation-in-prl-gene-is-associated-with-growth-traits-in-luxi-blackhead-sheep
#33
JOURNAL ARTICLE
Cui Mao, Zhanerke Akhatayeva, Haijian Cheng, Guoping Zhang, Fugui Jiang, Xianfeng Meng, Yuni Yao, Ibrahim Elsaeid Elnour, Xianyong Lan, Enliang Song
Prolactin is a highly versatile pituitary hormone with multiple biological functions. PRL expression is regulated by POU1F1 and the prophet of POU1F1 ( PROP1 ). The aim of this study was to investigate the indel variations in ovine PRL and the directly related ( PROP1 and POU1F1 ) genes, and their associations with growth traits in Luxi Blackhead (LXBH) sheep. A monomorphism in PROP1 and POU1F1 genes, and one novel 23-bp insertion mutation in the PRL gene, were identified in LXBH sheep. The 23 bp insertion mutation within PRL gene was significantly associated with several body measurements (e...
April 15, 2020: Animal Biotechnology
https://read.qxmd.com/read/32273286/-ngn-1-neurogenin-activates-transcription-of-multiple-terminal-selector-transcription-factors-in-the-caenorhabditis-elegans-nervous-system
#34
JOURNAL ARTICLE
Elyse L Christensen, Alexandra Beasley, Jessica Radchuk, Zachery E Mielko, Elicia Preston, Sidney Stuckett, John I Murray, Martin L Hudson
Proper nervous system development is required for an organism's survival and function. Defects in neurogenesis have been linked to neurodevelopmental disorders such as schizophrenia and autism. Understanding the gene regulatory networks that orchestrate neural development, specifically cascades of proneural transcription factors, can better elucidate which genes are most important during early neurogenesis. Neurogenins are a family of deeply conserved factors shown to be both necessary and sufficient for the development of neural subtypes...
June 1, 2020: G3: Genes—Genomes—Genetics
https://read.qxmd.com/read/32065332/n-3-polyunsaturated-fatty-acids-as-modulators-of-thermogenesis-in-ames-dwarf-mice
#35
JOURNAL ARTICLE
Nadine Lenzhofer, Sarah A Ohrnberger, Teresa G Valencak
Lipids, commonly split into saturated and mono- and polyunsaturated fatty acids, are key constituents of all biological membranes, and their exact proportions in different tissues were previously shown to be related to lifespan in mammals. As a mechanism, it was put forward that long-chain and highly unsaturated n-3 fatty acids may act as "pacemakers" in membranes while the n-6 fatty acid class may act as a counterbalance. Previously, long-lived Ames dwarf mice (Prop1 df/df) were found to have lower n-3 fatty acids and higher n-6 throughout their tissues...
February 17, 2020: GeroScience
https://read.qxmd.com/read/31948187/mutations-within-the-transcription-factor-prop1-in-a-cohort-of-turkish-patients-with-combined-pituitary-hormone-deficiency
#36
JOURNAL ARTICLE
Fatma Derya Bulut, Semine Özdemir Dilek, Damla Kotan, Eda Mengen, Fatih Gürbüz, Bilgin Yüksel
Objective: Mutations of genes encoding transcription factors which play important roles in pituitary morphogenesis, differentiation and maturation lead to combined pituitary hormone deficiency (CPHD). PROP1 gene mutations are reported as the most frequent genetic aetiology of CHPD. The aim of this study is to describe phenotype of Turkish CPHD patients and define frequency of PROP1 mutations. Methods: Fifty-seven CPHD patients from 50 families were screened for PROP1 mutations...
January 17, 2020: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/31913463/prop1-dependent-retinoic-acid-signaling-regulates-developmental-pituitary-morphogenesis-and-hormone-expression
#37
JOURNAL ARTICLE
Leonard Y M Cheung, Sally A Camper
Dietary vitamin A is metabolized into bioactive retinoic acid in vivo and regulates the development of many embryonic tissues. Retinoic acid signaling is active in the oral ectoderm-derived tissues of the neuroendocrine system, but its role there has not yet been fully explored. We show here that retinoic acid signaling is active during pituitary organogenesis and dependent on the pituitary transcription factor Prop1.Prop1-mutant mice show reduced expression of the aldehyde dehydrogenase gene Aldh1a2, which metabolizes the vitamin A-intermediate retinaldehyde into retinoic acid...
January 8, 2020: Endocrinology
https://read.qxmd.com/read/31149275/screening-of-prop-1-lhx2-and-pou1f1-mutations-in-patients-with-ectopic-posterior-pituitary-gland
#38
JOURNAL ARTICLE
H A Korkmaz, U Karaarslan, C Eraslan, D Atila, F Hazan, V Barışık, E S Ata, O Etlik, M Yıldız, B Ozkan
OBJECTIVE: Ectopic posterior pituitary gland (EPP) is usually characterized by an abnormal pituitary stalk and hypoplasia of the anterior hypophysis. The genetic mechanisms involved in the development of EPP remain uncertain. The aim of this study is to determine whether mutations in the three genes, PROP-1, LHX2, and POU1F1, are associated with the risk for and the characteristics of EPP. METHODS: In the Endocrinology Outpatient Clinic of "Dr. Behcet Uz" Children's Hospital, 27 patients with EPP were submitted to sequencing analyses of the PROP-1, LHX2, and POU1F1 genes...
July 2018: Acta endocrinologica: the international journal of the Romanian Society of Endocrinology
https://read.qxmd.com/read/31093944/genetic-analysis-of-adult-slovenian-patients-with-combined-pituitary-hormone-deficiency
#39
JOURNAL ARTICLE
Katica Bajuk Studen, Magdalena Avbelj Stefanija, Alexandru Saveanu, Anne Barlier, Thierry Brue, Marija Pfeifer
PURPOSE: Among genetic causes of combined pituitary hormone deficiency (CPHD), mutations of genes coding for transcription factors involved in pituitary development have been implicated. Congenital CPHD is a rare disease; therefore, it is important to expand the knowledge about incidence and regional distribution of specific mutations. The aim of this paper is to report results of genetic analyses of adult Slovenian patients with CPHD. METHODS: Twenty-three adult Slovenian patients with early childhood onset CPHD were included in the study...
May 15, 2019: Endocrine
https://read.qxmd.com/read/31028847/exome-based-search-for-recurrent-disease-causing-alleles-in-russian-population
#40
JOURNAL ARTICLE
Grigoriy A Yanus, Tatiana A Akhapkina, Aldon J Whitehead, Ilya V Bizin, Aglaya G Iyevleva, Ekaterina Sh Kuligina, Svetlana N Aleksakhina, Maria O Anisimova, Maxim M Holmatov, Alexandr A Romanko, Olga A Zaitseva, Olga S Yatsuk, Kirill A Zagorodnev, Maria A Matsneva, Andrey V Koloskov, Alexandr V Togo, Evgeny N Suspitsin, Evgeny N Imyanitov
Exomes of 27 Russian subjects were analyzed for the presence of medically relevant alleles, such as protein-truncating variants (PTVs) in known recessive disease-associated genes and pathogenic missense mutations included in the ClinVar database. 36 variants (24 PTVs and 12 amino acid substitutions) were identified and then subjected to the analysis in 897 population controls. 9/36 mutations were novel, however only two of them (POLH c.490delG associated with xeroderma pigmentosum variant and CATSPER1 c.859_860delCA responsible for spermatogenic failure) were shown to be recurrent...
April 24, 2019: European Journal of Medical Genetics
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