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references_cache/DOI_10.1001_jama.2008.598.md

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+---
+reference_id: "DOI:10.1001/jama.2008.598"
+title: Evolution of Novel Small-Molecule Therapeutics Targeting Sickle Cell Vasculopathy
+authors:
+- Gregory J. Kato
+journal: JAMA
+year: '2008'
+doi: 10.1001/jama.2008.598
+content_type: unavailable
+---
+
+# Evolution of Novel Small-Molecule Therapeutics Targeting Sickle Cell Vasculopathy
+**Authors:** Gregory J. Kato
+**Journal:** JAMA (2008)
+**DOI:** [10.1001/jama.2008.598](https://doi.org/10.1001/jama.2008.598)
+
+## Content

references_cache/DOI_10.1001_jama.294.1.81.md

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+---
+reference_id: "DOI:10.1001/jama.294.1.81"
+title: "Dysregulated Arginine Metabolism, Hemolysis-Associated Pulmonary Hypertension, and Mortality in Sickle Cell Disease"
+authors:
+- Claudia R. Morris
+journal: JAMA
+year: '2005'
+doi: 10.1001/jama.294.1.81
+content_type: unavailable
+---
+
+# Dysregulated Arginine Metabolism, Hemolysis-Associated Pulmonary Hypertension, and Mortality in Sickle Cell Disease
+**Authors:** Claudia R. Morris
+**Journal:** JAMA (2005)
+**DOI:** [10.1001/jama.294.1.81](https://doi.org/10.1001/jama.294.1.81)
+
+## Content

references_cache/DOI_10.1001_jamaneurol.2015.2101.md

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+---
+reference_id: "DOI:10.1001/jamaneurol.2015.2101"
+title: Analysis of Varicella-Zoster Virus in Temporal Arteries Biopsy Positive and Negative for Giant Cell Arteritis
+authors:
+- Maria A. Nagel
+- Teresa White
+- Nelly Khmeleva
+- April Rempel
+- Philip J. Boyer
+- Jeffrey L. Bennett
+- Andrea Haller
+- Kelly Lear-Kaul
+- Balasurbramaniyam Kandasmy
+- Malena Amato
+- Edward Wood
+- Vikram Durairaj
+- Franz Fogt
+- Madhura A. Tamhankar
+- Hans E. Grossniklaus
+- Robert J. Poppiti
+- Brian Bockelman
+- Kathy Keyvani
+- Lea Pollak
+- Sonia Mendlovic
+- Mary Fowkes
+- Charles G. Eberhart
+- Mathias Buttmann
+- Klaus V. Toyka
+- Tobias Meyer-ter-Vehn
+- Vigdis Petursdottir
+- Don Gilden
+journal: JAMA Neurology
+year: '2015'
+doi: 10.1001/jamaneurol.2015.2101
+content_type: unavailable
+---
+
+# Analysis of Varicella-Zoster Virus in Temporal Arteries Biopsy Positive and Negative for Giant Cell Arteritis
+**Authors:** Maria A. Nagel, Teresa White, Nelly Khmeleva, April Rempel, Philip J. Boyer, Jeffrey L. Bennett, Andrea Haller, Kelly Lear-Kaul, Balasurbramaniyam Kandasmy, Malena Amato, Edward Wood, Vikram Durairaj, Franz Fogt, Madhura A. Tamhankar, Hans E. Grossniklaus, Robert J. Poppiti, Brian Bockelman, Kathy Keyvani, Lea Pollak, Sonia Mendlovic, Mary Fowkes, Charles G. Eberhart, Mathias Buttmann, Klaus V. Toyka, Tobias Meyer-ter-Vehn, Vigdis Petursdottir, Don Gilden
+**Journal:** JAMA Neurology (2015)
+**DOI:** [10.1001/jamaneurol.2015.2101](https://doi.org/10.1001/jamaneurol.2015.2101)
+
+## Content

references_cache/DOI_10.1002_14651858.cd014544.pub2.md

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+---
+reference_id: "DOI:10.1002/14651858.cd014544.pub2"
+title: Non-clotting factor therapies for preventing bleeds in people with congenital hemophilia A or B
+authors:
+- Omotola O Olasupo
+- Noella Noronha
+- Megan S Lowe
+- Derek Ansel
+- Mihir Bhatt
+- Davide Matino
+journal: Cochrane Database of Systematic Reviews
+year: '2024'
+doi: 10.1002/14651858.cd014544.pub2
+content_type: unavailable
+---
+
+# Non-clotting factor therapies for preventing bleeds in people with congenital hemophilia A or B
+**Authors:** Omotola O Olasupo, Noella Noronha, Megan S Lowe, Derek Ansel, Mihir Bhatt, Davide Matino
+**Journal:** Cochrane Database of Systematic Reviews (2024)
+**DOI:** [10.1002/14651858.cd014544.pub2](https://doi.org/10.1002/14651858.cd014544.pub2)
+
+## Content

references_cache/DOI_10.1002_1873-3468.12646.md

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+---
+reference_id: "DOI:10.1002/1873-3468.12646"
+title: "<scp>TDP</scp>‐43 and <scp>FUS </scp><i>en route</i> from the nucleus to the cytoplasm"
+authors:
+- Helena Ederle
+- Dorothee Dormann
+journal: FEBS Letters
+year: '2017'
+doi: 10.1002/1873-3468.12646
+content_type: abstract_only
+---
+
+# <scp>TDP</scp>‐43 and <scp>FUS </scp><i>en route</i> from the nucleus to the cytoplasm
+**Authors:** Helena Ederle, Dorothee Dormann
+**Journal:** FEBS Letters (2017)
+**DOI:** [10.1002/1873-3468.12646](https://doi.org/10.1002/1873-3468.12646)
+
+## Content
+
+Misfolded or mislocalized RNA‐binding proteins (RBPs) and, consequently, altered mRNA processing, can cause neuronal dysfunction, eventually leading to neurodegeneration. Two prominent examples are the RBPs TAR DNA‐binding protein of 43 kDa (TDP‐43) and fused in sarcoma (FUS), which form pathological messenger ribonucleoprotein aggregates in patients suffering from amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two devastating neurodegenerative disorders. Here, we review the multiple functions of TDP‐43 and FUS in mRNA processing, both in the nucleus and in the cytoplasm. We discuss how TDP‐43 and FUS may exit the nucleus and how defects in both nuclear and cytosolic mRNA processing events, and possibly nuclear export defects, may contribute to neurodegeneration and ALS/FTD pathogenesis.

references_cache/DOI_10.1002_1873-3468.12969.md

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+---
+reference_id: "DOI:10.1002/1873-3468.12969"
+title: "Identification of a novel botulinum neurotoxin gene cluster in <i>Enterococcus</i>"
+authors:
+- Jason Brunt
+- Andrew T. Carter
+- Sandra C. Stringer
+- Michael W. Peck
+journal: FEBS Letters
+year: '2018'
+doi: 10.1002/1873-3468.12969
+content_type: abstract_only
+---
+
+# Identification of a novel botulinum neurotoxin gene cluster in <i>Enterococcus</i>
+**Authors:** Jason Brunt, Andrew T. Carter, Sandra C. Stringer, Michael W. Peck
+**Journal:** FEBS Letters (2018)
+**DOI:** [10.1002/1873-3468.12969](https://doi.org/10.1002/1873-3468.12969)
+
+## Content
+
+The deadly neurotoxins of Clostridium botulinum (BoNTs) comprise eight serotypes (A–G; X). The neurotoxin gene cluster encoding BoNT and its accessory proteins includes an operon containing an ntnh gene upstream of the boNT gene. Another operon contains either ha (haemagglutinin) or orfX genes (of unknown function). Here we describe a novel boNT gene cluster from Enterococcus sp. 3G1_DIV0629, with a typical ntnh gene and an uncommon orfX arrangement. The neurotoxin (designated putative eBoNT/J) contains a metallopeptidase zinc‐binding site, a translocation domain and a target cell attachment domain. Structural properties of the latter suggest a novel targeting mechanism with consequent implications for application by the pharmaceutical industry. This is the first complete boNT gene cluster identified in a non‐clostridial genome.

references_cache/DOI_10.1002_9781119142812.ch11.md

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+---
+reference_id: "DOI:10.1002/9781119142812.ch11"
+title: "Vesiculopustular, Bullous and Erosive Diseases of the Neonate"
+authors:
+- Caroline Mahon
+- Anna E. Martinez
+journal: "Harper's Textbook of Pediatric Dermatology"
+year: '2019'
+doi: 10.1002/9781119142812.ch11
+content_type: unavailable
+---
+
+# Vesiculopustular, Bullous and Erosive Diseases of the Neonate
+**Authors:** Caroline Mahon, Anna E. Martinez
+**Journal:** Harper's Textbook of Pediatric Dermatology (2019)
+**DOI:** [10.1002/9781119142812.ch11](https://doi.org/10.1002/9781119142812.ch11)
+
+## Content

references_cache/DOI_10.1002_9781119142812.ch6.md

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+---
+reference_id: "DOI:10.1002/9781119142812.ch6"
+title: Transient Skin Disorders in the Neonate and Young Infant
+authors:
+- Margarita Larralde
+- Maria Eugenia Abad
+journal: "Harper's Textbook of Pediatric Dermatology"
+year: '2019'
+doi: 10.1002/9781119142812.ch6
+content_type: unavailable
+---
+
+# Transient Skin Disorders in the Neonate and Young Infant
+**Authors:** Margarita Larralde, Maria Eugenia Abad
+**Journal:** Harper's Textbook of Pediatric Dermatology (2019)
+**DOI:** [10.1002/9781119142812.ch6](https://doi.org/10.1002/9781119142812.ch6)
+
+## Content

references_cache/DOI_10.1002_acn3.51791.md

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+---
+reference_id: "DOI:10.1002/acn3.51791"
+title: "Stiff person spectrum disorder diagnosis, misdiagnosis, and suggested diagnostic criteria"
+authors:
+- Nicholas H. Chia
+- Andrew McKeon
+- Marinos C. Dalakas
+- Eoin P. Flanagan
+- James H. Bower
+- Bryan T. Klassen
+- Divyanshu Dubey
+- Nicholas L. Zalewski
+- Dustin Duffy
+- Sean J. Pittock
+- Anastasia Zekeridou
+journal: Annals of Clinical and Translational Neurology
+year: '2023'
+doi: 10.1002/acn3.51791
+content_type: abstract_only
+---
+
+# Stiff person spectrum disorder diagnosis, misdiagnosis, and suggested diagnostic criteria
+**Authors:** Nicholas H. Chia, Andrew McKeon, Marinos C. Dalakas, Eoin P. Flanagan, James H. Bower, Bryan T. Klassen, Divyanshu Dubey, Nicholas L. Zalewski, Dustin Duffy, Sean J. Pittock, Anastasia Zekeridou
+**Journal:** Annals of Clinical and Translational Neurology (2023)
+**DOI:** [10.1002/acn3.51791](https://doi.org/10.1002/acn3.51791)
+
+## Content
+
+AbstractBackgroundStiff person spectrum disorder (SPSD) is heterogeneous, and accurate diagnosis can be challenging.MethodsPatients referred for diagnosis/suspicion of SPSD at the Mayo Autoimmune Neurology Clinic from July 01, 2016, to June 30, 2021, were retrospectively identified. SPSD diagnosis was defined as clinical SPSD manifestations confirmed by an autoimmune neurologist and seropositivity for high‐titer GAD65‐IgG (>20.0 nmol/L), glycine‐receptor‐IgG or amphiphysin‐IgG, and/or confirmatory electrodiagnostic studies (essential if seronegative). Clinical presentation, examination, and ancillary testing were compared to differentiate SPSD from non‐SPSD.ResultsOf 173 cases, 48 (28%) were diagnosed with SPSD and 125 (72%) with non‐SPSD. Most SPSD were seropositive (41/48: GAD65‐IgG 28/41, glycine‐receptor‐IgG 12/41, amphiphysin‐IgG 2/41). Pain syndromes or functional neurologic disorder were the most common non‐SPSD diagnoses (81/125, 65%). SPSD patients more commonly reported exaggerated startle (81% vs. 56%, p = 0.02), unexplained falls (76% vs. 46%, p = 0.001), and other associated autoimmunity (50% vs. 27%, p = 0.005). SPSD more often had hypertonia (60% vs. 24%, p < 0.001), hyperreflexia (71% vs. 43%, p = 0.001), and lumbar hyperlordosis (67% vs. 9%, p < 0.001) and less likely functional neurologic signs (6% vs. 33%, p = 0.001). SPSD patients more frequently had electrodiagnostic abnormalities (74% vs. 17%, p < 0.001), and at least moderate symptomatic improvement with benzodiazepines (51% vs. 16%, p < 0.001) or immunotherapy (45% vs. 13% p < 0.001). Only 4/78 non‐SPSD patients who received immunotherapy had alternative neurologic autoimmunity.InterpretationMisdiagnosis was threefold more common than confirmed SPSD. Functional or non‐neurologic disorders accounted for most misdiagnoses. Clinical and ancillary testing factors can reduce misdiagnosis and exposure to unnecessary treatments. SPSD diagnostic criteria are suggested.

references_cache/DOI_10.1002_advs.202506954.md

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+---
+reference_id: "DOI:10.1002/advs.202506954"
+title: FGF9–FGFR2 Signaling via Osteocytes‐Preosteoblasts Crosstalks to Mediate Mechanotransduction‐Driven Intramembranous Osteogenesis in the Underdeveloped Maxilla
+authors:
+- Yiwen Zhou
+- Lili Chen
+- Miaomiao Han
+- Peixiang Zhu
+- Yanyi Wang
+- Xuanxuan Yu
+- Tingyu Reng
+- Huijuan Wang
+- Baochao Li
+- Caixia Zhang
+- Ziwei Huang
+- Shuang Lin
+- Guoyun Wang
+- Jie Ge
+- Baosheng Guo
+- Huang Li
+journal: Advanced Science
+year: '2025'
+doi: 10.1002/advs.202506954
+content_type: abstract_only
+---
+
+# FGF9–FGFR2 Signaling via Osteocytes‐Preosteoblasts Crosstalks to Mediate Mechanotransduction‐Driven Intramembranous Osteogenesis in the Underdeveloped Maxilla
+**Authors:** Yiwen Zhou, Lili Chen, Miaomiao Han, Peixiang Zhu, Yanyi Wang, Xuanxuan Yu, Tingyu Reng, Huijuan Wang, Baochao Li, Caixia Zhang, Ziwei Huang, Shuang Lin, Guoyun Wang, Jie Ge, Baosheng Guo, Huang Li
+**Journal:** Advanced Science (2025)
+**DOI:** [10.1002/advs.202506954](https://doi.org/10.1002/advs.202506954)
+
+## Content
+
+Abstract
+Maxillary underdevelopment is a critical component of skeletal Class III malocclusion, closely linked to altered biomechanical signaling. Mechanical stimulation through early facemask protraction can effectively promote maxillary growth, yet the underlying mechanotransduction mechanisms remain unclear. In this study, fibroblast growth factor 9 (FGF9) is identified as a key biomechanical responder in maxillary development. Secreted predominantly by osteocytes, FGF9 interacts with fibroblast growth factor receptor 2 (FGFR2) on preosteoblasts to inhibit osteogenic differentiation. Mechanical stress reduces FGF9 secretion from osteocytes, thereby relieving its inhibitory effect and enhancing osteogenesis. Mechanistically, FGF9 promotes nuclear translocation of FGFR2 in preosteoblasts, which modulates transcription factors ATF5 and NR2F1 to suppress bone formation. In vivo, targeted overexpression of FGF9 in bone tissue led to significant maxillary growth impairment, underlying the pathological impact of disrupted mechanical signaling. These findings reveal a novel osteocyte–preosteoblast axis regulated by FGF9–FGFR2 signaling in response to mechanical stimulation and provide mechanistic insight into how biomechanical forces shape craniofacial development. This pathway offers new mechanistic insights and potential therapeutic targets for correcting craniofacial skeletal abnormalities.

references_cache/DOI_10.1002_ajmg.1271.md

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+---
+reference_id: "DOI:10.1002/ajmg.1271"
+title: Jackson-Weiss syndrome
+authors:
+- M. Michael Cohen
+journal: American Journal of Medical Genetics
+year: '2001'
+doi: 10.1002/ajmg.1271
+content_type: unavailable
+---
+
+# Jackson-Weiss syndrome
+**Authors:** M. Michael Cohen
+**Journal:** American Journal of Medical Genetics (2001)
+**DOI:** [10.1002/ajmg.1271](https://doi.org/10.1002/ajmg.1271)
+
+## Content

references_cache/DOI_10.1002_ajmg.a.37528.md

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+---
+reference_id: "DOI:10.1002/ajmg.a.37528"
+title: "Muenke syndrome: An international multicenter natural history study"
+authors:
+- Paul Kruszka
+- Yonit A. Addissie
+- Colin M. P. Yarnell
+- Donald W. Hadley
+- Maria J. Guillen Sacoto
+- Petra Platte
+- Yvonne Paelecke
+- Hartmut Collmann
+- Nicole Snow
+- Tilmann Schweitzer
+- Simeon A. Boyadjiev
+- Christos Aravidis
+- Samantha E. Hall
+- John B. Mulliken
+- Tony Roscioli
+- Maximilian Muenke
+journal: American Journal of Medical Genetics Part A
+year: '2016'
+doi: 10.1002/ajmg.a.37528
+content_type: abstract_only
+---
+
+# Muenke syndrome: An international multicenter natural history study
+**Authors:** Paul Kruszka, Yonit A. Addissie, Colin M. P. Yarnell, Donald W. Hadley, Maria J. Guillen Sacoto, Petra Platte, Yvonne Paelecke, Hartmut Collmann, Nicole Snow, Tilmann Schweitzer, Simeon A. Boyadjiev, Christos Aravidis, Samantha E. Hall, John B. Mulliken, Tony Roscioli, Maximilian Muenke
+**Journal:** American Journal of Medical Genetics Part A (2016)
+**DOI:** [10.1002/ajmg.a.37528](https://doi.org/10.1002/ajmg.a.37528)
+
+## Content
+
+Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal, and calcaneal fusions, and behavioral differences. Reduced penetrance and variable expressivity contribute to the wide spectrum of clinical findings. Muenke syndrome constitutes the most common syndromic form of craniosynostosis, with an incidence of 1 in 30,000 births and is defined by the presence of the p.Pro250Arg mutation in FGFR3. Participants were recruited from international craniofacial surgery and genetic clinics. Affected individuals, parents, and their siblings, if available, were enrolled in the study if they had a p.Pro250Arg mutation in FGFR3. One hundred and six patients from 71 families participated in this study. In 51 informative probands, 33 cases (64.7%) were inherited. Eighty‐five percent of the participants had craniosynostosis (16 of 103 did not have craniosynostosis), with 47.5% having bilateral and 28.2% with unilateral synostosis. Females and males were similarly affected with bicoronal craniosynostosis, 50% versus 44.4% (P = 0.84), respectively. Clefting was rare (1.1%). Hearing loss was identified in 70.8%, developmental delay in 66.3%, intellectual disability in 35.6%, attention deficit/hyperactivity disorder in 23.7%, and seizures in 20.2%. In patients with complete skeletal surveys (upper and lower extremity x‐rays), 75% of individuals were found to have at least a single abnormal radiographical finding in addition to skull findings. This is the largest study of the natural history of Muenke syndrome, adding valuable clinical information to the care of these individuals including behavioral and cognitive impairment data, vision changes, and hearing loss. © 2016 Wiley Periodicals, Inc.

references_cache/DOI_10.1002_ajmg.a.38503.md

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+---
+reference_id: "DOI:10.1002/ajmg.a.38503"
+title: Further delineation of the GDF6 related multiple synostoses syndrome
+authors:
+- Paulien A. Terhal
+- Nienke E. Verbeek
+- Nine Knoers
+- Rutger J. A. J. Nievelstein
+- Ans van den Ouweland
+- Ralph J. Sakkers
+- Lucienne Speleman
+- Gijs van Haaften
+journal: American Journal of Medical Genetics Part A
+year: '2018'
+doi: 10.1002/ajmg.a.38503
+content_type: abstract_only
+---
+
+# Further delineation of the GDF6 related multiple synostoses syndrome
+**Authors:** Paulien A. Terhal, Nienke E. Verbeek, Nine Knoers, Rutger J. A. J. Nievelstein, Ans van den Ouweland, Ralph J. Sakkers, Lucienne Speleman, Gijs van Haaften
+**Journal:** American Journal of Medical Genetics Part A (2018)
+**DOI:** [10.1002/ajmg.a.38503](https://doi.org/10.1002/ajmg.a.38503)
+
+## Content
+
+A mutation in GDF6 was recently found to underlie a multiple synostoses syndrome. In this report, we describe the second family with GDF6‐related multiple synostoses syndrome (SYNS4), caused by a novel c.1287C>A/p.Ser429Arg mutation in GDF6. In addition to synostoses of carpal and/or tarsal bones, at least 6 of 10 affected patients in this family have been diagnosed with mild to moderate hearing loss. In four of them otosclerosis was said to be present, one patient had hearing loss due to severe stapes fixation at the age of 6 years, providing evidence that hearing loss in the GDF6‐related multiple synostoses syndrome can be present in childhood. Two others had surgery for stapes fixation at adult age. We hypothesize that, identical to the recently published GDF6‐related multiple synostoses family, the p.Ser429Arg mutation also leads to a gain of function. The previously reported c.1330T>A/pTyr444Asn mutation was located in a predicted Noggin and receptor I interacting domain and the gain of function was partly due to resistance of the mutant GDF6 to the BMP‐inhibitor Noggin. The results in our family show that mutations predicting to affect the type II receptor interface can lead to a similar phenotype and that otosclerosis presenting in childhood can be part of the GDF6‐related multiple synostoses syndrome.