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Small pituitary size in children with Fanconi anemia.

BACKGROUND: Fanconi anemia (FA) is a genetic disorder associated with multiple congenital anomalies, bone marrow failure, and pituitary hypofunction including hypogonadism, thyroid dysfunction, and growth hormone (GH) deficiency. PROCEDURE: Among 44 patients with FA referred to Cincinnati Children's Hospital Medical Center (CCHMC) between 1975 and 2005, 33 had neuroimaging studies, including 11 cranial magnetic resonance imaging (MRIs). Two separate measurements per patient from these MRIs were used to evaluate pituitary height compared to on-site control data of similar measurements of crani

The SUMO Family: Mechanisms and Implications in Thyroid Cancer Pathogenesis and Therapy.

(1) Background: Small ubiquitin-like modifiers (SUMOs) are pivotal in post-translational modifications, influencing various cellular processes, such as protein localization, stability, and genome integrity. (2) Methods: This review explores the SUMO family, including its isoforms and catalytic cycle, highlighting their significance in regulating key biological functions in thyroid cancer. We discuss the multifaceted roles of SUMOylation in DNA repair mechanisms, protein stability, and the modulation of receptor activities, particularly in the context of thyroid cancer. (3) Results: The aberran

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… Furthermore, the pathogenic mutations in the TRAIP gene are associated with primordial dwarfism in patients [ 49 ]. SUMOylation has been demonstrated as critical for ensuring the proper subcellular localization and protein stability of TRAIP, which exhibits various functions in the nucleus [ 50 ]. … TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nat. Genet. 2016;48:36–43. doi: 10.1038/ng.3451. 50. Park I.S., Han Y., Chung H.J., Jung Y.W., Kim Y., Kim H. SUMOylation regulates nuclear localization and stability of TRAIP/RNF206. Biochem. …

Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora.

BACKGROUND: Lafora disease (LD; progressive myoclonus epilepsy type 2; EPM2) is an autosomal recessive disorder caused by mutations in the EPM2A and EPM2B genes. LD is characterized by the presence of strongly PAS-positive intracellular inclusions (Lafora bodies) in several tissues. Glycogen storage disease type IV (GSD-IV; Andersen disease) is an autosomal recessive disorder characterized by cirrhosis leading to severe liver failure. GSD-IV has been associated with mutations in the glycogen branching enzyme gene (GBE). Histopathologic changes of the liver in both diseases show an identical ap

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.

Ellis-van Creveld syndrome (EvC, MIM 225500) is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly and dysplastic nails and teeth. Congenital cardiac defects, most commonly a defect of primary atrial septation producing a common atrium, occur in 60% of affected individuals. The disease was mapped to chromosome 4p16 in nine Amish subpedigrees and single pedigrees from Mexico, Ecuador and Brazil. Weyers acrodental dysostosis (MIM 193530), an autosomal dominant disorder with a similar but milder phenotype, has been mapped in a single pedigree

MLK3 regulates bone development downstream of the faciogenital dysplasia protein FGD1 in mice.

Mutations in human FYVE, RhoGEF, and PH domain-containing 1 (FGD1) cause faciogenital dysplasia (FGDY; also known as Aarskog syndrome), an X-linked disorder that affects multiple skeletal structures. FGD1 encodes a guanine nucleotide exchange factor (GEF) that specifically activates the Rho GTPase CDC42. However, the mechanisms by which mutations in FGD1 affect skeletal development are unknown. Here, we describe what we believe to be a novel signaling pathway in osteoblasts initiated by FGD1 that involves the MAP3K mixed-lineage kinase 3 (MLK3). We observed that MLK3 functions downstream of FG

The pathological anatomical collection of the Natural History Museum Vienna.

The pathological anatomical collection Vienna (Pathologisch-Anatomische Sammlung Wien; PASW) is a living and still growing research collection. It was established as early as 1796 as part of the Medical University of Vienna, acquired the status of an independent federal museum in 1971, and was assigned to the Natural History Museum Vienna in 2012. It houses a wide range of human wet and dry specimens and further objects, such as moulages, medical devices, microbiological and histological specimens, and a photo archive (approximately 50,000 objects), which, as a meaningful source, may contribut

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… of the MPS (it includes seven types and several subtypes: IH = Hurler–Pfaundler syndrome, IS = Scheie syndrome, IH/S = Hurler/Scheie syndrome, II = Hunter syndrome, III = Sanfilippo syndrome, IV = Morquio syndrome, V = now: type IS, VI = Maroteaux–Lamy syndrome, VII = Sly syndrome); disproportionate dwarfism …

Hypophosphatemic rickets: diagnosis and treatment.

Hypophosphatemicrickets (HR) represents a heterogeneous group of disorders characterized by renal phosphate wasting, impaired bone mineralization, and skeletal deformities. This narrative review provides an overview of phosphate homeostasis and the molecular mechanisms underlying HR, focusing on the role of Fibroblast Growth Factor 23 (FGF23) in regulating renal phosphate use and vitamin D metabolism. The clinical, biochemical, and genetic features of both FGF23-dependent and -independent forms of HR are discussed, including X-linked hypophosphatemia (XLH), autosomal dominant hypophosphatemic

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… Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell. 1994;78(2):335–342. doi: 10.1016/0092-8674(94)90302-6.. 30. Ma Y, Kirby BJ, Fairbridge NA, Karaplis AC, Lanske B, Kovacs CS. …

Cellular and molecular mechanisms of muscle atrophy.

Skeletal muscle is a plastic organ that is maintained by multiple pathways regulating cell and protein turnover. During muscle atrophy, proteolytic systems are activated, and contractile proteins and organelles are removed, resulting in the shrinkage of muscle fibers. Excessive loss of muscle mass is associated with poor prognosis in several diseases, including myopathies and muscular dystrophies, as well as in systemic disorders such as cancer, diabetes, sepsis and heart failure. Muscle loss also occurs during aging. In this paper, we review the key mechanisms that regulate the turnover of co

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… Dwarfism, impaired skin development, skeletal muscle atrophy, delayed bone development, and impeded adipogenesis in mice lacking Akt1 and Akt2 . Genes Dev. 17 , 1352 – 1365 12782654 10.1101/gad.1089403 PMC196068 Peterson J. M. Bakkar N. Guttridge D. C. ( 2011 ). …

Early-Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen.

Early-onset osteoporosis (EOOP), characterized by low bone mineral density (BMD) and fractures, affects children, premenopausal women and men aged <50 years. EOOP may be secondary to a chronic illness, long-term medication, nutritional deficiencies, etc. If no such cause is identified, EOOP is regarded primary and may then be related to rare variants in genes playing a pivotal role in bone homeostasis. If the cause remains unknown, EOOP is considered idiopathic. The scope of this review is to guide through clinical and genetic diagnostics of EOOP, summarize the present knowledge on rare monoge

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… Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell. 1994;78(2):335‐342. 38. Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet. 2007;370(9582):162‐172. 39. Glorieux FH. Caffey disease: an unlikely collagenopathy. …

Pathogenic Role of FGFR3 Autoantibodies in Small Fiber Neuropathy.

Sensory neuronopathies (SNN) and small fiber neuropathies (SFN) are debilitating disorders associated with neuropathic pain, yet their underlying mechanisms remain poorly understood. Autoantibodies against fibroblast growth factor receptor 3 define a subset of patients with consistent reports of neuropathic pain harboring a distinct clinical phenotype characterized by small-fiber and non-length-dependent neuropathy, suggesting dorsal root ganglia (DRG) dysfunction. FGFR3-autoantibody-positive sera (FGFR3-AbS) bind to sensory neurons within dorsal root ganglia (DRG). The target of autoantibodie

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… Mutations in FGFR3 cause skeletal dysplasias including overgrowth of long bones and vertebrae or several forms of dwarfism, achondroplasia, and Crouzon syndrome [ 13 , 14 ]. …

Rejuvenation Strategy for Inducing and Enhancing Autoimmune Response to Eliminate Senescent Cells.

The process of aging, which involves progressive changes in the body over time, is closely associated with the development of age-related diseases. Cellular senescence is a pivotal hallmark and mechanism of the aging process. The accumulation of senescent cells can significantly contribute to the onset of age-related diseases, thereby compromising overall health. Conversely, the elimination of senescent cells enhances the body's regenerative and reparative capacity, thereby retarding the aging process. Here, we present a brief overview of 12 Hallmarks of aging and subsequently emphasize the po

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… Innate defects cause dwarfism, and youth suppression is beneficial to the body. Additionally, signaling pathways that rely on the tyrosine kinase provide additional targets for interventions on metabolic aging [ 7 ]. …

Dysregulated TRK signalling is a therapeutic target in CYLD defective tumours.

Individuals with germline mutations in the tumour-suppressor gene CYLD are at high risk of developing disfiguring cutaneous appendageal tumours, the defining tumour being the highly organised cylindroma. Here, we analysed CYLD mutant tumour genomes by array comparative genomic hybridisation and gene expression microarray analysis. CYLD mutant tumours were characterised by an absence of copy-number aberrations apart from LOH chromosome 16q, the genomic location of the CYLD gene. Gene expression profiling of CYLD mutant tumours showed dysregulated tropomyosin kinase (TRK) signalling, with overex

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… FGFR3 | 0.19 | Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) (FGFR3), transcript variant 1, mrna. C14ORF29 | 0.19 | Abhydrolase domain containing 12B (ABHD12B), transcript variant 2, mrna. DSG1 | 0.19 | Desmoglein 1 (DSG1), mrna. …

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… juvenile p. most frequent in German shepherd dogs where it is an autosomal recessive inherited trait but also occurs in other breeds; puppy dwarfism is not apparent until 2–3 months old; small stature, delayed dentition, retained puppy coat, progressive alopecia, infantile genitalia, and short life span … See also German shepherd dog dwarfism . panhysterectomy [ pan″his-t r-ek′t -me ] total hysterectomy. panhysterosalpingectomy [ pan-his″t r-o-sal″pin-jek′t -me ] excision of the uterus, cervix, and oviducts. …

Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.

X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic rickets and osteomalacia. In this disease, mutations in the PHEX gene lead to elevated levels of the hormone fibroblast growth factor 23 (FGF23), resulting in renal phosphate wasting and impaired skeletal and dental mineralization. Recently, international guidelines for the diagnosis and treatment of this condition have been published. However, more specific recommendations are needed to provide guidance at the national level, considering resource availability and health economic aspects. A national multidiscip

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… Finally, FGF23-mediated hypophosphatemia has been reported in two ultrarare skeletal dysplasias: osteoglophonic dysplasia (characterized by rhizomelic dwarfism, craniosynostosis, impacted teeth, hypodontia or anodontia, and multiple non-ossifying bone lesions) ( 75 ) and opsismodysplasia (a rare spondylo …

Выявляется стабильная устойчивая донора диких голубей для многих доминирующих видов брухидов в Индии.

Выявление стабильных и устойчивых источников представляет собой экологически благоприятную и устойчивую стратегию борьбы с насекомыми. Sixty-eight Присоединения диких голубей систематически проверялись three Преобладающие виды брухидов (Callosobruchus analis, C. chinensis, C. maculatus) с использованием высокопроизводительного скринингового трубопровода в Канпуре, Индия, 2021 в адрес 2024. Классификация устойчивости основывается на повреждении семян и индексе уязвимости. Four Присоединения к ринкосии брактета неизменно демонстрировали конвергентное и полное сопротивление в отношении различных

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… Thouars | ICP15799 | G1 | NBPGR, ICRISAT, Chattisgarh, West Bengal, Madhya Pradesh | Secondary | Tolerance to C. maculatus, pod borer, pod wasp and pod fly, Fusarium resistance; SMD, cyst nematode; dwarfism, high protein content, draught, salinity and aluminium toxicity tolerance; CMS (A2 cytoplasm) …

Molecular and cellular mechanisms of skeletal muscle atrophy: an update.

Skeletal muscle atrophy is defined as a decrease in muscle mass and it occurs when protein degradation exceeds protein synthesis. Potential triggers of muscle wasting are long-term immobilization, malnutrition, severe burns, aging as well as various serious and often chronic diseases, such as chronic heart failure, obstructive lung disease, renal failure, AIDS, sepsis, immune disorders, cancer, and dystrophies. Interestingly, a cooperation between several pathophysiological factors, including inappropriately adapted anabolic (e.g., growth hormone, insulin-like growth factor 1) and catabolic pr

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… Peng XD Xu PZ Chen ML Hahn-Windgassen A Skeen J Jacobs J Dwarfism, impaired skin development, skeletal muscle atrophy, delayed bone development, and impeded adipogenesis in mice lacking Akt1 and Akt2 Genes Dev 2003 17 1352 65 12782654 10.1101/gad.1089403 PMC196068 61. …

Exposome and unhealthy aging: environmental drivers from air pollution to occupational exposures.

The aging population worldwide is facing a significant increase in age-related non-communicable diseases, including cardiovascular and brain pathologies. This comprehensive review paper delves into the impact of the exposome, which encompasses the totality of environmental exposures, on unhealthy aging. It explores how environmental factors contribute to the acceleration of aging processes, increase biological age, and facilitate the development and progression of a wide range of age-associated diseases. The impact of environmental factors on cognitive health and the development of chronic age

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PROCEEDINGS 32nd Symposium ESVN-ECVN WROCLAW, POLAND 12th-14th September 2019. Selected research communications of the 32nd Symposium of the ESVN-ECVN Wroclaw, Poland 12th to 14th September 2019.

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Biomolecular condensates as dynamic regulators of musculoskeletal homeostasis, disease, and therapeutic challenges.

Biomolecular condensates are membraneless assemblies that concentrate proteins, nucleic acids, and other biomolecules into dynamic cellular compartments. Liquid-liquid phase separation (LLPS) is one important route by which such condensates form, particularly when multivalent interactions generate liquid-like, reversible assemblies. However, not every condensate or disease-associated assembly should be explained solely by LLPS. In the musculoskeletal system, condensates have been linked to transcription, signal transduction, RNA metabolism, stress responses, tissue development, homeostasis, an

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… Coupling transcription and splicing is essential for chondrocyte differentiation. 112 Dysregulation of this mechanism is associated with skeletal dysplasias such as campomelic dysplasia, chondrodysplasia, and dwarfism. Rare-disease evidence further supports a condensate mechanism. …