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Статті в журналах з теми "Acrodysostosis"

Автор: Grafiati

Опубліковано: 12 січня 2023

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1

Silve, C., E. Clauser, and A. Linglart. "Acrodysostosis." Hormone and Metabolic Research 44, no. 10 (July 19, 2012): 749–58. http://dx.doi.org/10.1055/s-0032-1316330.

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2

Silve, C., C. Le-Stunff, E. Motte, Y. Gunes, A. Linglart, and E. Clauser. "Acrodysostosis syndromes." BoneKEy Reports 1 (November 21, 2012): 225. http://dx.doi.org/10.1038/bonekey.2012.225.

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3

DAVIES, S. J., and H. E. HUGHES. "Familial acrodysostosis." Clinical Dysmorphology 1, no. 4 (October 1992): 207???216. http://dx.doi.org/10.1097/00019605-199210000-00003.

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4

Joshi, R. M., A. L. Pandya, B. A. Bharucha, Ravi Ramakantan, and N. B. Kumta. "Acrodysostosis syndrome." Indian Journal of Pediatrics 54, no. 2 (March 1987): 271–73. http://dx.doi.org/10.1007/bf02750824.

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5

Kirnap, Mehmet, Mustafa Calis, Cumali Gokce, Selim Kurtoglu, Mustafa Ozturk, and Fahrettin Kelestimur. "Acrodysostosis associated with hypercalcemia." HORMONES 12, no. 2 (April 15, 2013): 309–11. http://dx.doi.org/10.14310/horm.2002.1416.

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6

Hiers, Paul S., and Henry J. Rohrs. "UNEXPECTED HYPERPARATHYROIDISM IN A PATIENT WITH ACRODYSOSTOSIS." AACE Clinical Case Reports 6, no. 6 (November 2020): e326-e329. http://dx.doi.org/10.4158/accr-2020-0103.

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Анотація:

Objective: Acrodysostosis is a rare skeletal dysplasia with one gene mutation associated with pseudohypoparathyroidism. We describe a 15-year-old male patient with genetic acrodysostosis who presented with hyperparathyroidism. Methods: Laboratory testing, including genetic testing for acrodysostosis and biochemical evaluation for hypercalcemia, were obtained. For evaluation of the source of hyperparathyroidism, parathyroid imaging including technetium (99mTc) sestamibi (MIBI) scan, ultrasound, and 4-dimensional computed tomography scans were performed. Results: The initial calcium level of 11.7 mg/dL (reference range is 8.4 to 10.2 mg/dL), phosphorus of 2.6 mg/dL (reference range is 2.9 to 5.0 mg/dL), and parathyroid hormone (PTH) of 177 pg/mL (reference range is 15 to 65 pg/mL) were suspicious for hyperparathyroidism. Magnesium, albumin, creatinine, and PTH-related peptide levels were normal. His calcium/creatinine ratio was 0.15, calcium/creatinine clearance ratio was 0.008, and the fractional excretion of phosphorus was 34%. Our patient had no symptoms other than long-standing bone pain. Thyroid ultrasound then MIBI scan did not show a parathyroid adenoma or parathyroid gland hyperplasia. Familial hypocalciuric hypercalcemic syndrome was entertained, but without a family history and documented normal calcium levels throughout childhood, it was considered unlikely. On subsequent testing, his calcium and PTH levels increased. Subsequent imaging including repeat thyroid ultrasound, MIBI scan, and computed tomography did not find a definitive cause. Multiple endocrine neoplasia type 1 genetic testing was negative. Without an adenoma seen to remove surgically, we performed a trial of cinacalcet with successful reduction in PTH and normalization of his calcium and phosphorus levels. Conclusion: Pseudohypoparathyroidism and hypocalcemia are well reported in acrodysostosis. To the best of our knowledge, this is the first reported case of hypercalcemia caused by hyperparathyroidism in a patient with acrodysostosis.

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7

Viljoen, Denis, and Peter Beighton. "Epiphyseal stippling in acrodysostosis." American Journal of Medical Genetics 38, no. 1 (January 1, 1991): 43–45. http://dx.doi.org/10.1002/ajmg.1320380111.

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8

Vasava, Roopal, Bhargav Tank, and Abhilasha Jain. "A case of acrodysostosis: a rare primary bone dysplasia." International Journal of Research in Medical Sciences 6, no. 6 (May 25, 2018): 2165. http://dx.doi.org/10.18203/2320-6012.ijrms20182307.

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Анотація:

Acrodysostosis is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis and nasal hypoplasia. Diagnostic approach to this disorder is based on clinical, radiological and hormonal assays. We present a case of 11-year-old female child who presented with the complaint of short stubby hands and feet since birth and facial dysmorphism. Her skeletal survey revealed typical radiographic features of acrodysostosis. Hormonal assays did not reveal any significant abnormality. In this case report, we would like to highlight the clinical and radiological features of this disorder which could be helpful in diagnosis of this rare disease.

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9

Singh, Arvinder, Manjeet Kaur,, and Sohan Singh. "ACRODYSOSTOSIS - A RARE SKELETAL DYSPLASIA." Journal of Evolution of Medical and Dental sciences 2, no. 29 (July 18, 2013): 5342–48. http://dx.doi.org/10.14260/jemds/993.

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10

STEINER, R. D., and R. A. PAGON. "Autosomal dominant transmission of acrodysostosis." Clinical Dysmorphology 1, no. 4 (October 1992): 201???206. http://dx.doi.org/10.1097/00019605-199210000-00002.

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11

Lahoud, Georges Abi, Nohra Chalouhi, and Pascal Jabbour. "Acrodysostosis and Spinal Canal Involvement." World Neurosurgery 82, no. 3-4 (September 2014): 537.e9–537.e11. http://dx.doi.org/10.1016/j.wneu.2013.03.071.

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12

Macnicol, MF, and D. Makris. "Acrodysostosis and protrusio acetabuli. An association." Journal of Bone and Joint Surgery. British volume 70-B, no. 1 (January 1988): 38–39. http://dx.doi.org/10.1302/0301-620x.70b1.3339057.

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13

Hamanishi, Chiaki, Yukio Nagata, Yosiaki Nagao, Satosi Sohen, and Seisuke Tanaka. "Acrodysostosis Associated with Spinal Canal Stenosis." Spine 18, no. 13 (October 1993): 1922–25. http://dx.doi.org/10.1097/00007632-199310000-00035.

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14

Linglart, Agnès, Christine Menguy, Alain Couvineau, Colette Auzan, Yasemin Gunes, Mathilde Cancel, Emmanuelle Motte, et al. "RecurrentPRKAR1AMutation in Acrodysostosis with Hormone Resistance." New England Journal of Medicine 364, no. 23 (June 9, 2011): 2218–26. http://dx.doi.org/10.1056/nejmoa1012717.

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15

Silve, Caroline. "Acrodysostosis: A new form of pseudohypoparathyroidism?" Annales d'Endocrinologie 76, no. 2 (May 2015): 110–12. http://dx.doi.org/10.1016/j.ando.2015.03.004.

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16

Li, Nan, Min Nie, Mei Li, Yan Jiang, Xiaoping Xing, Ou Wang, Chunlin Li, and Weibo Xia. "The First Mutation Identified in a Chinese Acrodysostosis Patient Confirms a p.G289E Variation of PRKAR1A Causes Acrodysostosis." International Journal of Molecular Sciences 15, no. 8 (July 29, 2014): 13267–74. http://dx.doi.org/10.3390/ijms150813267.

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17

Ko, Jung Min, Kyu Sung Kwack, Sang-Hyun Kim, and Hyon-Ju Kim. "Acrodysostosis Associated with Symptomatic Cervical Spine Stenosis." Journal of Genetic Medicine 7, no. 2 (December 31, 2010): 145–50. http://dx.doi.org/10.5734/jgm.2010.7.2.145.

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18

Lee, Hane, John M. Graham, David L. Rimoin, Ralph S. Lachman, Pavel Krejci, Stuart W. Tompson, Stanley F. Nelson, Deborah Krakow, and Daniel H. Cohn. "Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis." American Journal of Human Genetics 90, no. 4 (April 2012): 746–51. http://dx.doi.org/10.1016/j.ajhg.2012.03.004.

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19

Sezer, Nebahat, Serap Tomruk Sutbeyaz, Fusun Koseoglu, Meltem Aras, and Ceyda Akın. "Adult case of acrodysostosis with severe neurologic involvement." Journal of Back and Musculoskeletal Rehabilitation 22, no. 2 (June 10, 2009): 125–29. http://dx.doi.org/10.3233/bmr-2009-0223.

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20

Muhn, F., E. Klopocki, L. Graul-Neumann, S. Uhrig, A. Colley, M. Castori, E. Lankes, et al. "Novel mutations of thePRKAR1Agene in patients with acrodysostosis." Clinical Genetics 84, no. 6 (February 21, 2013): 531–38. http://dx.doi.org/10.1111/cge.12106.

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21

Jalabert, Maud, François Rannou, and Christelle Nguyen. "Radicular claudication revealing possible acrodysostosis: A case report." Annals of Physical and Rehabilitation Medicine 61, no. 1 (January 2018): 60–61. http://dx.doi.org/10.1016/j.rehab.2017.06.001.

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22

Stockman, J. A. "Recurrent PRKAR1A Mutation in Acrodysostosis with Hormone Resistance." Yearbook of Pediatrics 2013 (January 2013): 151–53. http://dx.doi.org/10.1016/j.yped.2011.10.019.

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23

Gupte, Girish L., Archana S. Kher, Sanjeevani P. Kanade, Burjor A. Bharucha та Sharad N. Sagade. "Acrodysostosis with 5α reductase deficiency: An unsual association". Indian Journal of Pediatrics 61, № 3 (травень 1994): 287–90. http://dx.doi.org/10.1007/bf02752226.

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24

Hernández, Rosa María, Antonio Miranda, and Susana Kofman-Alfaro. "Acrodysostosis in two generations: an autosomal dominant syndrome." Clinical Genetics 39, no. 5 (June 28, 2008): 376–82. http://dx.doi.org/10.1111/j.1399-0004.1991.tb03045.x.

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25

Nii, Eiji, Masao Urawa, Toshiko Nshimura, Hiroshi Kitou, Shiro Ikegawa, Shin Shimizu, Hiroshi Taneda, Atsumasa Uchida, and Norio Niikawa. "Acrodysostosis with unusual iridal color changing with age." American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 144B, no. 6 (2007): 824–25. http://dx.doi.org/10.1002/ajmg.b.30492.

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26

Briet, Claire, Arrate Pereda, Catherine Le Stunff, Emmanuelle Motte, Juan de Dios Garcia-Diaz, Guiomar Perez de Nanclares, Nicolas Dumaz, and Caroline Silve. "Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3." Human Molecular Genetics 26, no. 20 (July 17, 2017): 3883–94. http://dx.doi.org/10.1093/hmg/ddx271.

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27

Giedion, Andres. "Acrodysostosis and craniofacial conodysplasia are two separate bone dysplasias." Pediatric Radiology 32, no. 3 (January 24, 2002): 214. http://dx.doi.org/10.1007/s00247-001-0635-x.

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28

Ueyama, Kaoru, Noriyuki Namba, Taichi Kitaoka, Keiko Yamamoto, Makoto Fujiwara, Yasuhisa Ohata, Takuo Kubota, and Keiichi Ozono. "Endocrinological and phenotype evaluation in a patient with acrodysostosis." Clinical Pediatric Endocrinology 26, no. 3 (2017): 177–82. http://dx.doi.org/10.1297/cpe.26.177.

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29

Michot, Caroline, Carine Le Goff, Alice Goldenberg, Avinash Abhyankar, Céline Klein, Esther Kinning, Anne-Marie Guerrot, et al. "Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis." American Journal of Human Genetics 90, no. 4 (April 2012): 740–45. http://dx.doi.org/10.1016/j.ajhg.2012.03.003.

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30

Lynch, Danielle C., David A. Dyment, Lijia Huang, Sarah M. Nikkel, Didier Lacombe, Philippe M. Campeau, Brendan Lee, et al. "Identification of Novel Mutations ConfirmsPde4das a Major Gene Causing Acrodysostosis." Human Mutation 34, no. 1 (November 9, 2012): 97–102. http://dx.doi.org/10.1002/humu.22222.

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31

Velasco, Harvy M., Ehsan Ullah, Angela M. Martin, Robert B. Hufnagel, and Carlos E. Prada. "Novel progressive acrodysostosis‐like skeletal dysplasia, cerebellar atrophy, and ichthyosis." American Journal of Medical Genetics Part A 182, no. 10 (August 11, 2020): 2214–21. http://dx.doi.org/10.1002/ajmg.a.61782.

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32

Mitsui, Toshikatsu, Ok-Hwa Kim, Christine M. Hall, Amaka Offiah, Diana Johnson, Dong-Kyu Jin, Teck-Hock Toh, et al. "Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2." American Journal of Medical Genetics Part A 164, no. 10 (July 10, 2014): 2529–34. http://dx.doi.org/10.1002/ajmg.a.36669.

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33

Lee, Benjamin Joseph, Lance Villeneuve, and Michael Martin. "Laminectomy as treatment for abrupt neurological decline in acrodysostosis: A case report." Surgical Neurology International 13 (October 21, 2022): 476. http://dx.doi.org/10.25259/sni_685_2022.

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Анотація:

Background: Acrodysostosis (ACRO) is a rare disorder of peripheral bone development which can be either sporadic or inherited with mutations in the PRKAR1A or PDE4D genes. The resulting phenotypical characteristics are variable and overlap with other dysostosis conditions, making diagnosis difficult without genotyping. Vertebral malformations have been reported with ACRO resulting in slowly progressive spinal cord compression leading to radiculopathy or myelopathy. Case Description: A 19-year-old female diagnosed with ACRO presented with progressively worsening lower extremity paraparesis, sensory loss, and urinary retention; she was wheelchair-bound. A magnetic resonance imaging showed cord signal change at the T2/T3 levels with accompanying diffuse cord edema between T6-T8. Six months following a T2/T3 and T6/T7 laminectomy, the patient’s symptoms improved, but she still required a wheelchair. Conclusion: Patients with ACRO should be regularly monitored for cord compression to allow for early surgical decompression to prevent long-term, devasting neurological compromise.

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34

Wilson, L. C., M. E. Oude Luttikhuis, M. Baraitser, H. M. Kingston, and R. C. Trembath. "Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis." Journal of Medical Genetics 34, no. 2 (February 1, 1997): 133–36. http://dx.doi.org/10.1136/jmg.34.2.133.

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35

Michot, Caroline, Carine Le Goff, Edward Blair, Patricia Blanchet, Yline Capri, Brigitte Gilbert-Dussardier, Alice Goldenberg, et al. "Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia." European Journal of Human Genetics 26, no. 11 (July 13, 2018): 1611–22. http://dx.doi.org/10.1038/s41431-018-0135-1.

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36

Bruystens, Jessica GH, Jian Wu, Audrey Fortezzo, Jason Del Rio, Cole Nielsen, Donald K. Blumenthal, Ruth Rock, Eduard Stefan та Susan S. Taylor. "Structure of a PKA RIα Recurrent Acrodysostosis Mutant Explains Defective cAMP-Dependent Activation". Journal of Molecular Biology 428, № 24 (грудень 2016): 4890–904. http://dx.doi.org/10.1016/j.jmb.2016.10.033.

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37

Amarasena, Sujeewa, M. G. K. Samanlatha, M. H. A. D. De Silva, and P. Kolombage. "A 12 year old girl with acrodysostosis: a rare cause of short stature." Sri Lanka Journal of Child Health 38, no. 2 (July 11, 2009): 72. http://dx.doi.org/10.4038/sljch.v38i2.684.

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38

Linglart, Agnès, Helena Fryssira, Olaf Hiort, Paul-Martin Holterhus, Guiomar Perez de Nanclares, Jesús Argente, Claudine Heinrichs, et al. "PRKAR1AandPDE4DMutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance." Journal of Clinical Endocrinology & Metabolism 97, no. 12 (December 1, 2012): E2328—E2338. http://dx.doi.org/10.1210/jc.2012-2326.

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39

Rhayem, Yara, Catherine Le Stunff, Waed Abdel Khalek, Colette Auzan, Jerome Bertherat, Agnès Linglart, Alain Couvineau, Caroline Silve, and Eric Clauser. "Functional Characterization ofPRKAR1AMutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex." Journal of Biological Chemistry 290, no. 46 (September 24, 2015): 27816–28. http://dx.doi.org/10.1074/jbc.m115.656553.

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40

Del-rio, Jason, Leon Wu, Tsanwen Lu, Phillip Aoto та Susan S. Taylor. "Functional and Structural Characterization of Acrodysostosis Mutations of PKA RIα Reveals Mechanism Causing resistant to cAMP activation". FASEB Journal 34, S1 (квітень 2020): 1. http://dx.doi.org/10.1096/fasebj.2020.34.s1.05949.

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41

Nagasaki, Keisuke, Tomoko Iida, Hidetoshi Sato, Yohei Ogawa, Toru Kikuchi, Akihiko Saitoh, Tsutomu Ogata, and Maki Fukami. "PRKAR1AMutation Affecting cAMP-Mediated G Protein-Coupled Receptor Signaling in a Patient with Acrodysostosis and Hormone Resistance." Journal of Clinical Endocrinology & Metabolism 97, no. 9 (September 1, 2012): E1808—E1813. http://dx.doi.org/10.1210/jc.2012-1369.

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42

Butler, Merlin G., Laura J. Rames, and William B. Wadlington. "Acrodysostosis: Report of a 13-year-old boy with review of literature and metacarphphalangeal pattern profile analysis." American Journal of Medical Genetics 30, no. 4 (August 1988): 971–80. http://dx.doi.org/10.1002/ajmg.1320300416.

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43

Bolger, Graeme B., Lisa High Mitchell Smoot, and Thomas van Groen. "Dominant-Negative Attenuation of cAMP-Selective Phosphodiesterase PDE4D Action Affects Learning and Behavior." International Journal of Molecular Sciences 21, no. 16 (August 9, 2020): 5704. http://dx.doi.org/10.3390/ijms21165704.

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Анотація:

PDE4 cyclic nucleotide phosphodiesterases reduce 3′, 5′ cAMP levels in the CNS and thereby regulate PKA activity and the phosphorylation of CREB, fundamental to depression, cognition, and learning and memory. The PDE4 isoform PDE4D5 interacts with the signaling proteins β-arrestin2 and RACK1, regulators of β2-adrenergic and other signal transduction pathways. Mutations in PDE4D in humans predispose to acrodysostosis, associated with cognitive and behavioral deficits. To target PDE4D5, we developed mice that express a PDE4D5-D556A dominant-negative transgene in the brain. Male transgenic mice demonstrated significant deficits in hippocampus-dependent spatial learning, as assayed in the Morris water maze. In contrast, associative learning, as assayed in a fear conditioning assay, appeared to be unaffected. Male transgenic mice showed augmented activity in prolonged (2 h) open field testing, while female transgenic mice showed reduced activity in the same assay. Transgenic mice showed no demonstrable abnormalities in prepulse inhibition. There was also no detectable difference in anxiety-like behavior, as measured in the elevated plus-maze. These data support the use of a dominant-negative approach to the study of PDE4D5 function in the CNS and specifically in learning and memory.

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44

Graham Jr., John M., Deborah Krakow, Vernon T. Tolo, Andrew K. Smith, and R. S. Lachman. "Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism." Pediatric Radiology 31, no. 1 (January 1, 2001): 2–9. http://dx.doi.org/10.1007/s002470000355.

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45

Jafari, Naeimeh, Jason Del Rio, Madoka Akimoto, Jung Ah Byun, Stephen Boulton, Kody Moleschi, Yousif Alsayyed, et al. "Noncanonical protein kinase A activation by oligomerization of regulatory subunits as revealed by inherited Carney complex mutations." Proceedings of the National Academy of Sciences 118, no. 21 (May 18, 2021): e2024716118. http://dx.doi.org/10.1073/pnas.2024716118.

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Анотація:

Familial mutations of the protein kinase A (PKA) R1α regulatory subunit lead to a generalized predisposition for a wide range of tumors, from pituitary adenomas to pancreatic and liver cancers, commonly referred to as Carney complex (CNC). CNC mutations are known to cause overactivation of PKA, but the molecular mechanisms underlying such kinase overactivity are not fully understood in the context of the canonical cAMP-dependent activation of PKA. Here, we show that oligomerization-induced sequestration of R1α from the catalytic subunit of PKA (C) is a viable mechanism of PKA activation that can explain the CNC phenotype. Our investigations focus on comparative analyses at the level of structure, unfolding, aggregation, and kinase inhibition profiles of wild-type (wt) PKA R1α, the A211D and G287W CNC mutants, as well as the cognate acrodysostosis type 1 (ACRDYS1) mutations A211T and G287E. The latter exhibit a phenotype opposite to CNC with suboptimal PKA activation compared with wt. Overall, our results show that CNC mutations not only perturb the classical cAMP-dependent allosteric activation pathway of PKA, but also amplify significantly more than the cognate ACRDYS1 mutations nonclassical and previously unappreciated activation pathways, such as oligomerization-induced losses of the PKA R1α inhibitory function.

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46

Kaname, Tadashi, Chang-Seok Ki, Norio Niikawa, George S. Baillie, Jonathan P. Day, Ken-ichi Yamamura, Tohru Ohta, et al. "Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis." Cellular Signalling 26, no. 11 (November 2014): 2446–59. http://dx.doi.org/10.1016/j.cellsig.2014.07.025.

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47

Thiele, Susanne, Giovanna Mantovani, Anne Barlier, Valentina Boldrin, Paolo Bordogna, Luisa De Sanctis, Francesca M. Elli, et al. "From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network." European Journal of Endocrinology 175, no. 6 (December 2016): P1—P17. http://dx.doi.org/10.1530/eje-16-0107.

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Анотація:

Objective Disorders caused by impairments in the parathyroid hormone (PTH) signalling pathway are historically classified under the term pseudohypoparathyroidism (PHP), which encompasses rare, related and highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an in vivo response to exogenous PTH and the results of an in vitro assay to measure Gsa protein activity. However, this classification disregards other related diseases such as acrodysostosis (ACRDYS) or progressive osseous heteroplasia (POH), as well as recent findings of clinical and genetic/epigenetic background of the different subtypes. Therefore, the EuroPHP network decided to develop a new classification that encompasses all disorders with impairments in PTH and/or PTHrP cAMP-mediated pathway. Design and methods Extensive review of the literature was performed. Several meetings were organised to discuss about a new, more effective and accurate way to describe disorders caused by abnormalities of the PTH/PTHrP signalling pathway. Results and conclusions After determining the major and minor criteria to be considered for the diagnosis of these disorders, we proposed to group them under the term ‘inactivating PTH/PTHrP signalling disorder’ (iPPSD). This terminology: (i) defines the common mechanism responsible for all diseases; (ii) does not require a confirmed genetic defect; (iii) avoids ambiguous terms like ‘pseudo’ and (iv) eliminates the clinical or molecular overlap between diseases. We believe that the use of this nomenclature and classification will facilitate the development of rationale and comprehensive international guidelines for the diagnosis and treatment of iPPSDs.

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Le Stunff, Catherine, Francoise Tilotta, Jérémy Sadoine, Dominique Le Denmat, Claire Briet, Emmanuelle Motte, Eric Clauser, Pierre Bougnères, Catherine Chaussain, and Caroline Silve. "Knock-In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis." Journal of Bone and Mineral Research 32, no. 2 (October 24, 2016): 333–46. http://dx.doi.org/10.1002/jbmr.2987.

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Motte, Emmanuelle, Catherine Le Stunff, Claire Briet, Nicolas Dumaz, and Caroline Silve. "Modulation of signaling through GPCR-cAMP-PKA pathways by PDE4 depends on stimulus intensity: Possible implications for the pathogenesis of acrodysostosis without hormone resistance." Molecular and Cellular Endocrinology 442 (February 2017): 1–11. http://dx.doi.org/10.1016/j.mce.2016.11.026.

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Motte, E., C. Le Stunff, A. Linglart, and C. Silve. "Absence of renal resistance to PTH in PDE4D-mutated acrodysostosis patients: Regulation of cAMP/PKA pathway by PDE4 may be tissue and agonist-specific – example of renal PTH signaling pathway." Annales d'Endocrinologie 74, no. 4 (September 2013): 294. http://dx.doi.org/10.1016/j.ando.2013.07.170.

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