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The following term was not found in PubMed: RAB23-related
Page 1
Rab23 and developmental disorders.
Hor CHH, Tang BL, Goh ELK. Hor CHH, et al. Rev Neurosci. 2018 Nov 27;29(8):849-860. doi: 10.1515/revneuro-2017-0110. Rev Neurosci. 2018. PMID: 29727300 Review.
Interestingly, RAB23 null allele homozygosity in humans is not lethal, but instead causes the developmental disorder Carpenter's syndrome (CS), which is characterized by craniofacial malformations, polysyndactyly, obesity and intellectual disability. ...
Interestingly, RAB23 null allele homozygosity in humans is not lethal, but instead causes the developmental disorder Carpenter's s …
Genetic obesity syndromes.
Goldstone AP, Beales PL. Goldstone AP, et al. Front Horm Res. 2008;36:37-60. doi: 10.1159/000115336. Front Horm Res. 2008. PMID: 18230893 Review.
By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathways. In this review we focus particularly on Bardet-Biedl syndrome, whose molecular genetics and cell biology has been elucidated rec …
By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathw …
Craniosynostosis update 1987.
Cohen MM Jr. Cohen MM Jr. Am J Med Genet Suppl. 1988;4:99-148. doi: 10.1002/ajmg.1320310514. Am J Med Genet Suppl. 1988. PMID: 3144990 Review.
Newly recognized disorders with cloverleaf skull include Beare-Stevenson cutis gyratum syndrome and Say-Poznanski syndrome. Craniosynostosis syndromes and associations discussed include acrocraniofacial dysostosis, Apert syndrome, Beare-Stevenson cutis gyratu …
Newly recognized disorders with cloverleaf skull include Beare-Stevenson cutis gyratum syndrome and Say-Poznanski syndrome. Cr …
Carpenter syndrome: a review for the craniofacial surgeon.
Kadakia S, Helman SN, Healy NJ, Saman M, Wood-Smith D. Kadakia S, et al. J Craniofac Surg. 2014 Sep;25(5):1653-7. doi: 10.1097/SCS.0000000000001121. J Craniofac Surg. 2014. PMID: 25162549 Review.
IMPORTANCE: As of now, there is no review of Carpenter syndrome (CS) for the craniofacial surgeon. This article seeks to unify salient recent studies to provide a resource for surgical planning and overview of this challenging syndrome. ...Literature from oth …
IMPORTANCE: As of now, there is no review of Carpenter syndrome (CS) for the craniofacial surgeon. This article seeks to unify …
Hedgehog signaling update.
Cohen MM Jr. Cohen MM Jr. Am J Med Genet A. 2010 Aug;152A(8):1875-914. doi: 10.1002/ajmg.a.32909. Am J Med Genet A. 2010. PMID: 20635334 Review.
Disorders associated with the hedgehog signaling network follow, including nevoid basal cell carcinoma syndrome, holoprosencephaly, Smith-Lemli-Opitz syndrome, Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Carpenter syndrome …
Disorders associated with the hedgehog signaling network follow, including nevoid basal cell carcinoma syndrome, holoprosencephaly, S …
An etiologic and nosologic overview of craniosynostosis syndromes.
Cohen MM Jr. Cohen MM Jr. Birth Defects Orig Artic Ser. 1975;11(2):137-89. Birth Defects Orig Artic Ser. 1975. PMID: 179637 Review.
Disorders presented include the Kleeblattschadel anomaly, Crouzon syndrome, Apert syndrome, Pfeiffer syndrome, Saethre-Chotzen syndrome, Carpenter syndrome, Christian syndrome, Summitt syndrome, Baller-Gerold syndrome …
Disorders presented include the Kleeblattschadel anomaly, Crouzon syndrome, Apert syndrome, Pfeiffer syndrome, Saethre- …
Thyroid autoimmunity and polyglandular endocrine syndromes.
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L. Wémeau JL, et al. Hormones (Athens). 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. Hormones (Athens). 2013. PMID: 23624130 Free article. Review.
Thyroid disorders, which are the most frequent expression of adult polyendocrine syndrome type 2, occur concomitantly with or secondarily to insulinodependent diabetes, premature ovarian failure, Addison's disease (Schmidt syndrome, or Carpenter syn …
Thyroid disorders, which are the most frequent expression of adult polyendocrine syndrome type 2, occur concomitantly with or …
The Greig cephalopolysyndactyly syndrome.
Biesecker LG. Biesecker LG. Orphanet J Rare Dis. 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. Orphanet J Rare Dis. 2008. PMID: 18435847 Free PMC article. Review.
The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. ...Antenatal molecular diagnosis is technically straightforward to perform. Differential diagnoses include preaxial polydactyly type 4, the GCPS contiguous …
The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. ...Antenatal molecular …
Small GTPases in hedgehog signalling: emerging insights into the disease mechanisms of Rab23-mediated and Arl13b-mediated ciliopathies.
Hor CH, Goh EL. Hor CH, et al. Curr Opin Genet Dev. 2019 Jun;56:61-68. doi: 10.1016/j.gde.2019.07.009. Epub 2019 Aug 27. Curr Opin Genet Dev. 2019. PMID: 31465935 Review.
This review thus specifically discuss the roles of Rab23 and Arl13b in primary cilia of mammalian systems, their cilia-dependent and cilia-independent modulation of hedgehog signalling pathways and their implications in Carpenter Syndrome and Joubert Syndrome …
This review thus specifically discuss the roles of Rab23 and Arl13b in primary cilia of mammalian systems, their cilia-dependent and cilia-i …
Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes.
Cohen DM, Green JG, Miller J, Gorlin RJ, Reed JA. Cohen DM, et al. Am J Med Genet. 1987 Oct;28(2):311-24. doi: 10.1002/ajmg.1320280208. Am J Med Genet. 1987. PMID: 3322002 Review.
Carpenter syndrome (ACPS type II) was first described by Carpenter in 1901. ...Here we review the literature on Carpenter syndrome and add 2 affected sibs with marked intrafamilial variability. ...
Carpenter syndrome (ACPS type II) was first described by Carpenter in 1901. ...Here we review the literat …
18 results