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Items from 1 to 20 out of 80 results

article

Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data

María Angeles García Teresa, Raquel Porto Abal, Silvia Rodríguez Torres, Diego García Urabayen, more

Anales de Pediatr�a (English Edition) > 2017 > 86 > 5 > 255-263

Congenital central hypoventilation syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care.To determine the characteristics and outcomes of Spanish patients with CCHS, and detect clinical areas for improvement.An assessment was made on the data from Spanish patients in the European...

article

Spectrum of paired‐like homeobox 2b immunoexpression in pediatric brain tumors with embryonal morphology

Murad Alturkustani, Adam D. Walker, Ivy Tran, Matija Snuderl, more

Pathology International > 72 > 8 > 402 - 410

Paired‐like homeobox 2b (PHOX2B) is an established immunomarker for peripheral neuroblastoma and autonomic nervous system cells. We aimed to evaluate the utility of PHOX2B immunostaining in central nervous system (CNS) tumors with embryonal morphology. Fifty‐one tumors were stained with PHOX2B and submitted for whole slide image analysis: 35 CNS tumors with embryonal morphology (31 CNS embryonal tumors...

article

Neurocognitive monitoring in congenital central hypoventilation syndrome with the NIH Toolbox®

Remi Z. Welbel, Casey M. Rand, Amy Zhou, Allaa Fadl‐Alla, more

Pediatric Pulmonology > 57 > 9 > 2040 - 2047

Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy, caused by mutations in the paired‐like homeobox gene PHOX2B, which alters control of breathing and autonomic nervous system regulation, necessitating artificial ventilation as life‐support. A broad range of neurocognitive performance has been reported in CCHS, including an array of cognitive deficits. We administered the...

article

Impaired ventilation during 6‐min walk test in congenital central hypoventilation syndrome

Radhika N. Ghosh, Lokesh Guglani, Adrianna L. Westbrook, Chad Y. Mao, more

Pediatric Pulmonology > 57 > 7 > 1660 - 1667

Background Patients with congenital central hypoventilation syndrome (CCHS) can develop hypoxemia and hypercapnia during exercise. However, there is limited literature on cardiorespiratory responses during submaximal exercise and their correlation with paired‐like homeobox 2B (PHOX2B) genotype. Objectives To assess oxygen saturation (SpO₂), end‐tidal carbon dioxide (ETCO₂), heart rate (HR), and...

article

Neonatal apneic phenotype in a murine congenital central hypoventilation syndrome model is induced through non‐cell autonomous developmental mechanisms

Diego Alzate‐Correa, Jillian Mei‐ling Liu, Mikayla Jones, Talita M. Silva, more

Brain Pathology > 31 > 1 > 84 - 102

Congenital central hypoventilation syndrome (CCHS) represents a rare genetic disorder usually caused by mutations in the homeodomain transcription factor PHOX2B. Some CCHS patients suffer mainly from deficiencies in CO₂ and/or O₂ respiratory chemoreflex, whereas other patients present with full apnea shortly after birth. Our goal was to identify the neuropathological mechanisms of apneic presentations...

article

Causative and common PHOX2B variants define a broad phenotypic spectrum

Tiziana Bachetti, Isabella Ceccherini

Clinical Genetics > 97 > 1 > 103 - 113

Paired Like homeobox 2B (PHOX2B) is a gene crucial for the differentiation of the neural lineages of the autonomic nervous system (ANS), whose coding mutations cause congenital central hypoventilation syndrome (CCHS). The vast majority of PHOX2B mutations in CCHS is represented by expansions of a polyalanine region in exon 3, collectively defined PARMs (PolyAlanine Repeat Mutations), the minority...

article

Multifocal primary neuroblastoma tumor heterogeneity in siblings with co‐occurring PHOX2B and NF1 genetic aberrations

Brad Rybinski, Tamar Wolinsky, Andrew Brohl, Scott Moerdler, more

Genes, Chromosomes and Cancer > 59 > 2 > 119 - 124

Neuroblastoma, the most common extracranial solid tumor of childhood, can present in multiple primary sites, but the extent of genetic heterogeneity among tumor foci, as well as the presence or absence of common oncogenic drivers, remains unknown. Although PHOX2B genetic aberrations can cause familial neuroblastoma, they demonstrate incomplete penetrance with respect to neuroblastoma pathogenesis,...

article

Optogenetic analysis of respiratory neuronal networks in the ventral medulla of neonatal rats producing channelrhodopsin in Phox2b-positive cells

Keiko Ikeda, Hiroyuki Igarashi, Hiromu Yawo, Kazuto Kobayashi, more

Pflügers Archiv - European Journal of Physiology > 2019 > 471 > 11-12 > 1419-1439

Paired-like homeobox gene Phox2b is predominantly expressed in pre-inspiratory neurons in the parafacial respiratory group (pFRG) in newborn rat rostral ventrolateral medulla. To analyse detailed local networks of the respiratory centre using optogenetics, the effects of selective activation of Phox2b-positive neurons in the ventral medulla on respiratory rhythm generation were examined in brainstem–spinal...

article

Tridimensional mapping of Phox2b expressing neurons in the brainstem of adult Macaca fascicularis and identification of the retrotrapezoid nucleus

Jonathan Levy, Patricia Facchinetti, Caroline Jan, Mélyna Achour, more

Journal of Comparative Neurology > 527 > 17 > 2875 - 2884

Chemosensitivity is a key mechanism for the regulation of breathing in vertebrates. The retrotrapezoid nucleus is a crucial hub for respiratory chemoreception within the brainstem. It integrates chemosensory information that are both peripheral from the carotid bodies (via the nucleus of the solitary tract) and central through the direct sensing of extracellular protons. To date, the location of a...

article

Molecular insights into the role of the polyalanine region in mediating PHOX2B aggregation

Luciano Pirone, Laura Caldinelli, Simona Di Lascio, Rocco Di Girolamo, more

The FEBS Journal > 286 > 13 > 2505 - 2521

About 90% of congenital central hypoventilation syndrome (CCHS) patients show polyalanine triplet expansions in the coding region of transcription factor PHOX2B, which renders this protein an intriguing target to understand the insurgence of this syndrome and for the design of a novel therapeutical approach. Consistently with the role of PHOX2B as a transcriptional regulator, it is reasonable that...

article

Novel PHOX2B mutations in congenital central hypoventilation syndrome

Ayako Sasaki, Yumiko Kishikawa, Reisuke Imaji, Yu Fukushima, more

Pediatrics International > 61 > 4 > 393 - 396

Background Congenital central hypoventilation syndrome (CCHS) is caused by mutation of paird‐like homeobox 2B (PHOX2B). Approximately 90% of patients were found to carry polyalanine repeat expansion mutation (PARM), and the remaining 10% had non‐PARM (NPARM). In PARM, the length of the polyalanine expansion correlates with clinical disease severity. Most patients with NPARM have hypoventilation symptoms...

article

The role of PHOX2B‐derived astrocytes in chemosensory control of breathing and sleep homeostasis

Catherine M. Czeisler, Talita M. Silva, Summer R. Fair, Jillian Liu, more

The Journal of Physiology > 597 > 8 > 2225 - 2251

Key points The embryonic PHOX2B‐progenitor domain generates neuronal and glial cells which together are involved in chemosensory control of breathing and sleep homeostasis. Ablating PHOX2B‐derived astrocytes significantly contributes to secondary hypoxic respiratory depression as well as abnormalities in sleep homeostasis. PHOX2B‐derived astrocyte ablation results in axonal pathologies in the retrotrapezoid...

article

Spinal Accessory Motor Neurons in the Mouse: A Special Type of Branchial Motor Neuron?

Charles Watson, Petr Tvrdik

The Anatomical Record > 302 > 3 > 505 - 511

The spinal accessory nerve arises from motor neurons in the upper cervical spinal cord. The axons of these motor neurons exit dorsal to the ligamentum denticulatum and form the spinal accessory nerve. The nerve ascends in the spinal subarachnoid space to enter the posterior cranial fossa through the foramen magnum. The spinal accessory nerve then turns caudally to exit through the jugular foramen...

article

Prospective investigation of applicability and the prognostic significance of bone marrow involvement in patients with neuroblastoma detected by quantitative reverse transcription PCR

Alexander E. Druy, Egor V. Shorikov, Grigory A. Tsaur, Alexander M. Popov, more

Pediatric Blood & Cancer > 65 > 11 > n/a - n/a

Background Detection of bone marrow (BM) involvement in patients with neuroblastoma is crucial for staging and defining prognosis. Furthermore, the persistence of residual tumor cells in the BM is associated with an unfavorable outcome. Methods Expression of PHOX2B, TH, ELAVL4, and B4GALNT1 (GD2‐synthase) was analyzed by quantitative polymerase chain reaction in neuroblastoma cell lines, control...

article

Desogestrel down-regulates PHOX2B and its target genes in progesterone responsive neuroblastoma cells

Silvia Cardani, Simona Di Lascio, Debora Belperio, Erika Di Biase, more

Experimental Cell Research > 2018 > 370 > 2 > 671-679

The paired-like homeobox 2B gene (PHOX2B) encodes a key transcription factor that plays a role in the development of the autonomic nervous system and the neural structures involved in controlling breathing. In humans, PHOX2B over-expression plays a role in the pathogenesis of tumours arising from the sympathetic nervous system such as neuroblastomas, and heterozygous PHOX2B mutations cause Congenital...

article

PHOX2B is a reliable immunomarker in distinguishing peripheral neuroblastic tumours from CNS embryonal tumours

Sanda Alexandrescu, Vera Paulson, Adrian Dubuc, Azra Ligon, more

Histopathology > 73 > 3 > 483 - 491

Aims The PHOX2B gene regulates neuronal maturation in the brain stem nuclei associated with cardiorespiratory function and in the autonomic sympathetic and enteric nervous system. PHOX2B expression is a reliable immunomarker for peripheral neuroblastic tumours; however, no systematic evaluation of central nervous system (CNS) embryonal tumours was included in the studies. We encountered two cases...

article

Congenital central hypoventilation syndrome: Broader cognitive deficits revealed by parent controls

Frank A. Zelko, Tracey M. Stewart, Cindy D. Brogadir, Casey M. Rand, more

Pediatric Pulmonology > 53 > 4 > 492 - 497

Objective To investigate neurocognitive deficits in children with Congenital Central Hypoventilation Syndrome (CCHS) by comparing them to their parents, since parents comprise a particularly suitable control group matched on disease‐extrinsic factors that can influence neurocognitive functioning. We compared CCHS patients to their parents and to population norms, hypothesizing that they would obtain...

article

Utility of Phox2b immunohistochemical stain in neural crest tumours and non‐neural crest tumours in paediatric patients

Mikako Warren, Ryosuke Matsuno, Henry Tran, Hiroyuki Shimada

Histopathology > 72 > 4 > 685 - 696

Aims This study evaluated the utility of Phox2b in paediatric tumours. Previously, tyrosine hydroxylase (TH) was the most widely utilised sympathoadrenal marker specific for neural crest tumours with neuronal/neuroendocrine differentiation. However, its sensitivity is insufficient. Recently Phox2b has emerged as another specific marker for this entity. Methods and results Phox2b immunohistochemistry...

article

Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome

Simona Di Lascio, Roberta Benfante, Eleonora Di Zanni, Silvia Cardani, more

Human Mutation > 39 > 2 > 219 - 236

Heterozygous mutations in the PHOX2B gene are causative of congenital central hypoventilation syndrome (CCHS), a neurocristopathy characterized by defective autonomic control of breathing due to the impaired differentiation of neural crest cells. Among PHOX2B mutations, polyalanine (polyAla) expansions are almost exclusively associated with isolated CCHS, whereas frameshift variants, although less...

article

PHOX2B reliably distinguishes neuroblastoma among small round blue cell tumours

Yin P Hung, John P Lee, Andrew M Bellizzi, Jason L Hornick

Histopathology > 71 > 5 > 786 - 794

Aims Neuroblastoma shows considerable histological overlap with other small round blue cell tumours. PHOX2B, a transcription factor that is essential for autonomic nervous system development, has been reported as an immunohistochemical marker for neuroblastoma. The aim of this study was to validate the specificity and diagnostic utility of PHOX2B for peripheral neuroblastic tumours. Methods and...

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Keywords

PHOX2B (80)
NEUROBLASTOMA (18)
CONGENITAL CENTRAL HYPOVENTILATION SYNDROME (15)
RETROTRAPEZOID NUCLEUS (8)
CCHS (7)
PHOX2A (7)
NEURAL CREST (6)
IMMUNOHISTOCHEMISTRY (4)
PARAFACIAL RESPIRATORY GROUP (4)
AUTONOMIC NERVOUS SYSTEM (3)
BREATHING (3)
CENTRAL CHEMORECEPTORS (3)
ENTERIC NERVOUS SYSTEM (3)
HIRSCHSPRUNG DISEASE (3)
INTELLIGENCE (3)
NEUROPSYCHOLOGY (3)
POLYALANINE EXPANSION (3)
ZEBRAFISH (3)
ADRENAL CHROMAFFIN CELLS (2)
ANS DYSREGULATION (2)
BONE MARROW (2)
CENTRAL CHEMORECEPTOR (2)
CHEMOSENSATION (2)
CONTROL OF BREATHING (2)
CURCUMIN (2)
DELTA (2)
DHAND (2)
DIFFERENTIAL DIAGNOSIS (2)
DIFFERENTIATION (2)
EXERCISE (2)
HAND2 (2)
HIRSCHSPRUNG'S DISEASE (2)
MASH-1 (2)
MEDULLA OBLONGATA (2)
NEUROCRISTOPATHY (2)
NEWBORN RAT (2)
NORADRENERGIC NEURON (2)
NOTCH (2)
PROGNOSIS (2)
RESPIRATION (2)
SIDS (2)
SOX10 (2)
SYMPATHOADRENAL CELL LINEAGE (2)
TRANSCRIPTION FACTOR (2)
TYROSINE HYDROXYLASE (2)
17-AAG (1)
3′UTR REGULATORY ELEMENTS (1)
5-HTT (1)
6MWT (1)
A5 (1)
AFFYMETRIX (1)
AGGREGATION (1)
ALK (1)
ANATOMY (1)
APNEA (1)
AREA POSTREMA (1)
ARTIFICIAL VENTILATION (1)
ASISTENCIA SANITARIA (1)
ATTENTION (1)
AUTONOMIC (DYS)REGULATION (1)
AXONAL GROWTH (1)
BAC TRANSGENIC MOUSE LINE (1)
BLOOD VESSELS (1)
BMP (1)
BONE MORPHOGENETIC PROTEINS (1)
BRAIN DERIVED NEUROTROPHIC FACTOR (BDNF) (1)
BRAIN TUMORS (1)
BRANCHIAL (1)
C-FOS IMMUNOREACTIVITY (1)
C-RET (1)
CALCIUM IMAGING (1)
CAROTID BODY (1)
CCHS (CONGENITAL CENTRAL HYPOVENTILATION SYNDROME) (1)
CELL TYPE-SPECIFIC TRANSCRIPTION (1)
CELLULAR TOXICITY (1)
CENTRAL AUTONOMIC PATHWAYS (1)
CENTRAL CONGENITAL HYPOVENTILATION SYNDROME (1)
CENTRAL HYPOVENTILATION (1)
CENTRAL HYPOVENTILATION SYNDROME (1)
CHANNELRHODOPSIN (1)
CHEMOAFFERENTS (1)
CHEMOREFLEX (1)
CHEMOREFLEXES (1)
CHEMOSENSITIVITY (1)
CHEMOTHERAPY (1)
CHICKEN (1)
CHROMATIN IMMUNOPRECIPITATION (1)
CIRCLING BEHAVIOR (1)
CIRCUMVENTRICULATE ORGAN (1)
CNS EMBRYONAL TUMOR (1)
CNS EMBRYRONAL TUMOURS (1)
COGNITION (1)
COLORLESS (1)
CONGENITAL CENTRAL HYPOVENTILATION SYNDROME (CCHS) (1)
CONGENITAL HYPOVENTILATION SYNDROME (1)
COR PULMONALE (1)
CRANIAL NEUROGENIC PLACODES (1)
CRANIAL SENSORY GANGLIA (1)
DESOGESTREL (1)
DLX2 (1)
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Springer (9)

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Search results

Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data

Spectrum of paired‐like homeobox 2b immunoexpression in pediatric brain tumors with embryonal morphology

Neurocognitive monitoring in congenital central hypoventilation syndrome with the NIH Toolbox®

Impaired ventilation during 6‐min walk test in congenital central hypoventilation syndrome

Neonatal apneic phenotype in a murine congenital central hypoventilation syndrome model is induced through non‐cell autonomous developmental mechanisms

Causative and common PHOX2B variants define a broad phenotypic spectrum

Multifocal primary neuroblastoma tumor heterogeneity in siblings with co‐occurring PHOX2B and NF1 genetic aberrations

Optogenetic analysis of respiratory neuronal networks in the ventral medulla of neonatal rats producing channelrhodopsin in Phox2b-positive cells

Tridimensional mapping of Phox2b expressing neurons in the brainstem of adult Macaca fascicularis and identification of the retrotrapezoid nucleus

Molecular insights into the role of the polyalanine region in mediating PHOX2B aggregation

Novel PHOX2B mutations in congenital central hypoventilation syndrome

The role of PHOX2B‐derived astrocytes in chemosensory control of breathing and sleep homeostasis

Spinal Accessory Motor Neurons in the Mouse: A Special Type of Branchial Motor Neuron?

Prospective investigation of applicability and the prognostic significance of bone marrow involvement in patients with neuroblastoma detected by quantitative reverse transcription PCR

Desogestrel down-regulates PHOX2B and its target genes in progesterone responsive neuroblastoma cells

PHOX2B is a reliable immunomarker in distinguishing peripheral neuroblastic tumours from CNS embryonal tumours

Congenital central hypoventilation syndrome: Broader cognitive deficits revealed by parent controls

Utility of Phox2b immunohistochemical stain in neural crest tumours and non‐neural crest tumours in paediatric patients

Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome

PHOX2B reliably distinguishes neuroblastoma among small round blue cell tumours

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