keyword
https://read.qxmd.com/read/34518474/lim-homeodomain-lim-hd-genes-and-their-co-regulators-in-developing-reproductive-system-and-disorders-of-sex-development
#21
REVIEW
Neha Singh, Domdatt Singh, Deepak Modi
LIM homeodomain (LIM-HD) family genes are transcription factors that play crucial roles in a variety of functions during embryonic development. The activities of the LIM-HD proteins are regulated by the co-regulators LIM only (LMO) and LIM domain-binding (LDB). In the mouse genome, there are 13 LIM-HD genes (Lhx1-Lhx9, Isl1-2, Lmx1a-1b), 4 Lmo genes (Lmo1-4), and 2 Ldb genes (Ldb1-2). Amongst these, Lhx1 is required for the development of the müllerian duct epithelium and the timing of the primordial germ cell migration...
September 10, 2021: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/34416880/pitx-controls-amphioxus-asymmetric-morphogenesis-by-promoting-left-side-development-and-repressing-right-side-formation
#22
JOURNAL ARTICLE
Chaofan Xing, Rongrong Pan, Guangwei Hu, Xian Liu, Yiquan Wang, Guang Li
BACKGROUND: Left-right (LR) asymmetry is an essential feature of bilateral animals. Studies in vertebrates show that LR asymmetry formation comprises three major steps: symmetry breaking, asymmetric gene expression, and LR morphogenesis. Although much progress has been made in the first two events, mechanisms underlying asymmetric morphogenesis remain largely unknown due to the complex developmental processes deployed by vertebrate organs. RESULTS: We here addressed this question by studying Pitx gene function in the basal chordate amphioxus whose asymmetric organogenesis, unlike that in vertebrates, occurs essentially in situ and does not rely on cell migration...
August 20, 2021: BMC Biology
https://read.qxmd.com/read/34324184/generation-of-motor-neurons-from-human-escs-ipscs-using-sendai-virus-vectors
#23
JOURNAL ARTICLE
Keiko Imamura, Jitsutaro Kawaguchi, Tsugumine Shu, Haruhisa Inoue
Human motor neurons are important materials for the research of the pathogenesis and drug discovery of motor neuron diseases. Various methods to generate motor neurons (MNs) from embryonic stem cells (ESCs) or induced pluripotent stem cells (iPSCs) by the addition of signaling molecules have been reported. However, they require multiple steps and complicated processes. Here we describe an approach for generating human MNs from ESCs/iPSCs using a single Sendai virus vector encoding three transcription factors-Lhx3, Ngn2, and Isl1...
2021: Methods in Molecular Biology
https://read.qxmd.com/read/34124982/occurrence-of-hypopituitarism-in-tunisian-turner-syndrome-patients-familial-versus-sporadic-cases
#24
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/33890524/dwarfism-in-tibetan-terrier-dogs-with-an-lhx3-mutation
#25
JOURNAL ARTICLE
Tuddow Thaiwong, Sarah Corner, Stacey La Forge, Matti Kiupel
Canine pituitary dwarfism in German Shepherd and related dog breeds has been reported to be associated with a 7-bp deletion mutation in intron 5 of the LHX3 gene. This mutation is transmitted as an autosomal recessive trait that results in dwarf dogs with significantly smaller stature and abnormal haircoat, and potentially early death. Phenotypically, affected adult dogs are proportionally dwarfs. These dwarfs also have a soft, woolly puppy coat that fails to transition into the typical adult hair coat, and marked hair loss occurs in some dogs...
April 23, 2021: Journal of Veterinary Diagnostic Investigation
https://read.qxmd.com/read/33753082/cis-regulatory-code-for-determining-the-action-of-foxd-as-both-an-activator-and-a-repressor-in-ascidian-embryos
#26
JOURNAL ARTICLE
Shinichi Tokuhiro, Yutaka Satou
In early embryos of Ciona, an invertebrate chordate, the animal-vegetal axis is established by the combinatorial actions of maternal factors. One target of these maternal factors, Foxd, is specifically expressed in the vegetal hemisphere and stabilizes the animal-vegetal axis by activating vegetal hemisphere-specific genes and repressing animal hemisphere-specific genes. This dual functionality is essential for the embryogenesis of early ascidian embryos; however, the mechanism by which Foxd can act as both a repressor and an activator is unknown...
August 2021: Developmental Biology
https://read.qxmd.com/read/33729509/comprehensive-identification-of-pathogenic-gene-variants-in-patients-with-neuroendocrine-disorders
#27
JOURNAL ARTICLE
Sebastian Alexis Vishnopolska, Maria Florencia Mercogliano, Maria Andrea Camilletti, Amanda Helen Mortensen, Debora Braslavsky, Ana Keselman, Ignacio Bergadá, Federico Olivieri, Lucas Miranda, Roxana Marino, Pablo Ramírez, Natalia Pérez Garrido, Helen Patiño Mejia, Marta Ciaccio, Maria Isabel Di Palma, Alicia Belgorosky, Marcelo Adrian Martí, Jacob Otto Kitzman, Sally Ann Camper, Maria Ines Pérez-Millán
PURPOSE: Congenital hypopituitarism (CH) can present in isolation or with other birth defects. Mutations in multiple genes can cause CH, and the use of a genetic screening panel could establish the prevalence of mutations in known and candidate genes for this disorder. It could also increase the proportion of patients that receive a genetic diagnosis. METHODS: We conducted target panel genetic screening using single-molecule molecular inversion probes sequencing to assess the frequency of mutations in known hypopituitarism genes and new candidates in Argentina...
June 16, 2021: Journal of Clinical Endocrinology and Metabolism
https://read.qxmd.com/read/33642396/the-role-of-pineal-microrna-325-in-regulating-circadian-rhythms-after-neonatal-hypoxic-ischemic-brain-damage
#28
JOURNAL ARTICLE
Ning Sha, Hua-Wei Wang, Bin Sun, Min Gong, Po Miao, Xiao-Lu Jiang, Xiao-Feng Yang, Mei Li, Li-Xiao Xu, Chen-Xi Feng, Yuan-Yuan Yang, Jie Zhang, Wen-Jing Zhu, Yuan-Yuan Gao, Xing Feng, Xin Ding
Circadian rhythm disorder is a common, but often neglected, consequence of neonatal hypoxic-ischemic brain damage (HIBD). However, the underlying molecular mechanisms remain largely unknown. We previously showed that, in a rat model of HIBD, up-regulation of microRNA-325 (miR-325) in the pineal gland is responsible for the suppression of Aanat, a key enzyme involved in melatonin synthesis and circadian rhythm regulation. To better understand the mechanism by which miR-325 affects circadian rhythms in neonates with HIBD, we compared clinical samples from neonates with HIBD and samples from healthy neonates recruited from the First Affiliated Hospital of Soochow University (Dushuhu Branch) in 2019...
October 2021: Neural Regeneration Research
https://read.qxmd.com/read/33550451/intronic-variant-in-pou1f1-associated-with-canine-pituitary-dwarfism
#29
JOURNAL ARTICLE
Kaisa Kyöstilä, Julia E Niskanen, Meharji Arumilli, Jonas Donner, Marjo K Hytönen, Hannes Lohi
The anterior pituitary gland secretes several endocrine hormones, essential for growth, reproduction and other basic physiological functions. Abnormal development or function of the pituitary gland leads to isolated or combined pituitary hormone deficiency (CPHD). At least 30 genes have been associated with human CPHD, including many transcription factors, such as POU1F1. CPHD occurs spontaneously also in mice and dogs. Two affected breeds have been reported in dogs: German Shepherds with a splice defect in the LHX3 gene and Karelian Bear Dogs (KBD) with an unknown genetic cause...
November 2021: Human Genetics
https://read.qxmd.com/read/33458649/contrasting-dna-binding-behaviour-by-isl1-and-lhx3-underpins-differential-gene-targeting-in-neuronal-cell-specification
#30
JOURNAL ARTICLE
Ngaio C Smith, Lorna E Wilkinson-White, Ann H Y Kwan, Jill Trewhella, Jacqueline M Matthews
The roles of ISL1 and LHX3 in the development of spinal motor neurons have been well established. Whereas LHX3 triggers differentiation into interneurons, the additional expression of ISL1 in developing neuronal cells is sufficient to redirect their developmental trajectory towards spinal motor neurons. However, the underlying mechanism of this action by these transcription factors is less well understood. Here, we used electrophoretic mobility shift assays (EMSAs) and surface plasmon resonance (SPR) to probe the different DNA-binding behaviours of these two proteins, both alone and in complexes mimicking those found in developing neurons, and found that ISL1 shows markedly different binding properties to LHX3...
2021: Journal of structural biology: X
https://read.qxmd.com/read/33098107/clinical-lessons-learned-in-constitutional-hypopituitarism-from-two-decades-of-experience-in-a-large-international-cohort
#31
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/32937137/lim-homeodomain-transcription-factor-lhx4-is-required-for-the-differentiation-of-retinal-rod-bipolar-cells-and-off-cone-bipolar-subtypes
#32
JOURNAL ARTICLE
Xuhui Dong, Hua Yang, Xiangtian Zhou, Xiaoling Xie, Dongliang Yu, Luming Guo, Mei Xu, Wenjun Zhang, Guoqing Liang, Lin Gan
Retinal bipolar cells (BCs) connect with photoreceptors and relay visual information to retinal ganglion cells (RGCs). Retina-specific deletion of Lhx4 in mice results in a visual defect resembling human congenital stationary night blindness. This visual dysfunction results from the absence of rod bipolar cells (RBCs) and the loss of selective rod-connecting cone bipolar cell (CBC) subtypes and AII amacrine cells (ACs). Inactivation of Lhx4 causes the apoptosis of BCs and cell fate switch from some BCs to ACs, whereas Lhx4 overexpression promotes BC genesis...
September 15, 2020: Cell Reports
https://read.qxmd.com/read/32783653/generation-and-optimization-of-highly-pure-motor-neurons-from-human-induced-pluripotent-stem-cells-via-lentiviral-delivery-of-transcription-factors
#33
JOURNAL ARTICLE
Masood Sepehrimanesh, Baojin Ding
Generation of neurons from human induced pluripotent stem cells (hiPSCs) overcomes the limited access to human brain samples and greatly facilitates the progress of research in neurological diseases. However, it is still a challenge to generate a particular neuronal subtype with high purity and yield for determining the pathogenesis of diseased neurons using biochemical approaches. Motor neurons (MNs) are a specialized neuronal subtype responsible for governing both autonomic and volitional movement. Dysfunctions in MNs are implicated in a variety of movement diseases, such as amyotrophic lateral sclerosis (ALS)...
August 12, 2020: American Journal of Physiology. Cell Physiology
https://read.qxmd.com/read/32633438/the-formation-of-multiple-pituitary-pouches-from-the-oral-ectoderm-causes-ectopic-lens-development-in-hedgehog-signaling-defective-avian-embryos
#34
JOURNAL ARTICLE
Yuki Taira, Yuya Ikuta, Sachiko Inamori, Mitsuo Nunome, Mikiharu Nakano, Takayuki Suzuki, Yoichi Matsuda, Masaoki Tsudzuki, Machiko Teramoto, Hideaki Iida, Hisato Kondoh
BACKGROUND: Hedgehog signaling has various regulatory functions in tissue morphogenesis and differentiation. To investigate its involvement in anterior pituitary precursor development and the lens precursor potential for anterior pituitary precursors, we investigated Talpid mutant Japanese quail embryos, in which hedgehog signaling is defective. RESULTS: Talpid mutants develop multiple pituitary precursor-like pouches of variable sizes from the oral ectoderm (OE)...
July 7, 2020: Developmental Dynamics
https://read.qxmd.com/read/32612575/sema3a-and-igsf10-are-novel-contributors-to-combined-pituitary-hormone-deficiency-cphd
#35
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/32571478/sequentially-induced-motor-neurons-from-human-fibroblasts-facilitate-locomotor-recovery-in-a-rodent-spinal-cord-injury-model
#36
JOURNAL ARTICLE
Hyunah Lee, Hye Yeong Lee, Byeong Eun Lee, Daniela Gerovska, Soo Yong Park, Holm Zaehres, Marcos J Araúzo-Bravo, Jae-Ick Kim, Yoon Ha, Hans R Schöler, Jeong Beom Kim
Generation of autologous human motor neurons holds great promise for cell replacement therapy to treat spinal cord injury (SCI). Direct conversion allows generation of target cells from somatic cells, however, current protocols are not practicable for therapeutic purposes since converted cells are post-mitotic that are not scalable. Therefore, therapeutic effects of directly converted neurons have not been elucidated yet. Here, we show that human fibroblasts can be converted into induced motor neurons (iMNs) by sequentially inducing POU5F1(OCT4) and LHX3 ...
June 23, 2020: ELife
https://read.qxmd.com/read/32096339/does-the-fshb-c-211g-t-polymorphism-impact-sertoli-cell-number-and-the-spermatogenic-potential-in-infertile-patients
#37
JOURNAL ARTICLE
Maria Schubert, Sophie Kaldewey, Lina Pérez Lanuza, Henrike Krenz, Martin Dugas, Sven Berres, Sabine Kliesch, Joachim Wistuba, Jörg Gromoll
BACKGROUND: A genetic variant within the FSHB gene can deviate FSH action on spermatogenesis. The c.-211G>T FSHB single nucleotide polymorphism impacts FSHB transcription and biosynthesis due to interference with the LHX3 transcription factor binding. This SNP was previously shown to be strongly associated with lowered testicular volume, reduced sperm counts, and decreased FSH levels in patients carrying one or two T-alleles. OBJECTIVE: To determine the impact of the SNP FSHB c...
February 24, 2020: Andrology
https://read.qxmd.com/read/31845906/congenital-pituitary-hypoplasia-model-demonstrates-hypothalamic-otx2-regulation-of-pituitary-progenitor-cells
#38
JOURNAL ARTICLE
Ryusaku Matsumoto, Hidetaka Suga, Takashi Aoi, Hironori Bando, Hidenori Fukuoka, Genzo Iguchi, Satoshi Narumi, Tomonobu Hasegawa, Keiko Muguruma, Wataru Ogawa, Yutaka Takahashi
Pituitary develops from oral ectoderm in contact with adjacent ventral hypothalamus. Impairment in this process results in congenital pituitary hypoplasia (CPH); however, there have been no human disease models for CPH thus far, prohibiting the elucidation of the underlying mechanisms. In this study, we established a disease model of CPH using patient-derived induced pluripotent stem cells (iPSCs) and 3D organoid technique, in which oral ectoderm and hypothalamus develop simultaneously. Interestingly, patient iPSCs with a heterozygous mutation in the orthodenticle homeobox 2 (OTX2) gene showed increased apoptosis in the pituitary progenitor cells, and the differentiation into pituitary hormone-producing cells was severely impaired...
December 17, 2019: Journal of Clinical Investigation
https://read.qxmd.com/read/31801865/kaposi-s-sarcoma-associated-herpesvirus-lana-modulates-the-stability-of-the-e3-ubiquitin-ligase-rlim
#39
JOURNAL ARTICLE
Hagar Tadmor, Melanie Greenway, Anuj Ahuja, Ola Orgil, Gangling Liao, Richard F Ambinder, S Diane Hayward, Meir Shamay
The Kaposi's sarcoma-associated herpesvirus (KSHV)-encoded latency-associated nuclear antigen (LANA) protein functions in latently infected cells as an essential participant in KSHV genome replication and as a driver of dysregulated cell growth. In a previous study, we have identified LANA-interacting proteins using a protein array screen. Here, we explore the effect of LANA on the stability and activity of RLIM (RING finger LIM-domain-interacting protein, encoded by the RNF12 gene), a novel LANA-interacting protein identified in that protein screen...
February 14, 2020: Journal of Virology
https://read.qxmd.com/read/31306102/lhx3-is-an-advanced-stage-prognostic-biomarker-and-metastatic-oncogene-in-hepatocellular-carcinoma
#40
JOURNAL ARTICLE
Zhong-Lan You
BACKGROUND: Hepatocellular carcinoma (HCC) is a common cancer and exhibits high morbidity and mortality in the world. We recently identified LHX3 as a preferentially expressed gene with a possible involvement in HCC. OBJECTIVE: To determine the expression, clinical relevance, prognostic significance and functions of LHX3 in HCC. MATERIALS AND METHODS: LHX3 expression was assessed in 190 cancerous and 40 adjacent non-cancerous tissues by PCR, western blot and immunohistochemistry...
July 5, 2019: Cancer Biomarkers: Section A of Disease Markers
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