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Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type

Autor: N, Badiner, S P, Taylor, K, Forlenza, R S, Lachman, M, Bamshad, D, Nickerson, D H, Cohn, D, Krakow

Publikováno v: Clinical genetics. 92(2)

The short-rib polydactyly syndromes (SRPS) are autosomal recessively inherited, genetically heterogeneous skeletal ciliopathies. SRPS phenotypes were historically categorized as types I–IV, with type I first delineated by Saldino and Noonan in 1972

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::91f63a53df8beae1b3e7be759ded911b
https://pubmed.ncbi.nlm.nih.gov/27925158

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The effects of different cysteine for glycine substitutions within alpha 2(I) chains. Evidence of distinct structural domains within the type I collagen triple helix

Autor: D H Cohn, Richard J. Wenstrup, Charlotte L. Phillips, L W Lever, A W Shrago-Howe, P H Byers

Publikováno v: Journal of Biological Chemistry. 266:2590-2594

Affected individuals from two apparently distinct, mild osteogenesis imperfecta families were heterozygous for a G to T transition in the COL1A2 gene that resulted in cysteine for glycine substitutions at position 646 in the alpha 2(I) chain of type

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6a9e3090078d4005b457b652142c6418
https://doi.org/10.1016/s0021-9258(18)52286-9

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Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes

Autor: M, Faiyaz-Ul-Haque, S H E, Zaidi, L M, King, S, Haque, M, Patel, M, Ahmad, T, Siddique, W, Ahmad, L-C, Tsui, D H, Cohn

Publikováno v: Clinical genetics. 67(1)

Split-hand/split-foot malformation (SHFM) is a genetically heterogeneous disorder, with five known loci, that causes a lack of median digital rays, syndactyly, and aplasia or hypoplasia of the phalanges, metacarpals, and metatarsals. In the only know

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::082a6b7925a29f91a7972aca4a08251a
https://pubmed.ncbi.nlm.nih.gov/15617554

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Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis)

Autor: M, Faiyaz-Ul-Haque, W, Ahmad, S H E, Zaidi, S, Hussain, S, Haque, M, Ahmad, D H, Cohn, L-C, Tsui

Publikováno v: Clinical genetics. 66(2)

Multiple hereditary exostoses (HME) is an autosomal dominant developmental disorder exhibiting multiple osteocartilaginous bone tumors that generally arise near the ends of growing long bones. Here, we report two large consanguineous families from Pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b93f51965f827b415710604d15745417
https://pubmed.ncbi.nlm.nih.gov/15253765

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Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)

Autor: M, Faiyaz-Ul-Haque, W, Ahmad, S H E, Zaidi, S, Haque, A S, Teebi, M, Ahmad, D H, Cohn, L-C, Tsui

Publikováno v: Clinical genetics. 61(6)

The present authors have previously described a consanguineous Pakistani family with fibular hypoplasia and complex brachydactyly (DuPan syndrome) inherited as an autosomal recessive trait. All affected individuals showed either reductions or absence

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8b0982747beb1667c2109ca5b254b321
https://pubmed.ncbi.nlm.nih.gov/12121354

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Procollagen II amino propeptide processing by ADAMTS-3. Insights on dermatosparaxis

Autor: R J, Fernandes, S, Hirohata, J M, Engle, A, Colige, D H, Cohn, D R, Eyre, S S, Apte

Publikováno v: The Journal of biological chemistry. 276(34)

The amino and carboxyl propeptides of procollagens I and II are removed by specific enzymes as a prerequisite for fibril assembly. Null mutations in procollagen I N-propeptidase (ADAMTS-2) cause dermatosparaxis in cattle and the Ehlers-Danlos syndrom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8f87cced348e8216a4fee0692c0438a5
https://pubmed.ncbi.nlm.nih.gov/11408482

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Defects in extracellular matrix structural proteins in the osteochondrodysplasias

Autor: D H, Cohn

Publikováno v: Novartis Foundation symposium. 232

Mutations in the genes that encode structural proteins of the extracellular matrix affect one or more steps in the diverse set of coordinated events necessary for ordered skeletal development. Depending on the role of the gene product and the severit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5c1b1526bb6d79546d8b194a7158007c
https://pubmed.ncbi.nlm.nih.gov/11277081

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Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons

Autor: D J, Wilkin, R, Liberfarb, J, Davis, H P, Levy, W G, Cole, C A, Francomano, D H, Cohn

Publikováno v: American journal of medical genetics. 94(2)

Stickler syndrome is one of the milder phenotypes resulting from mutations in the gene that encodes type-II collagen, COL2A1. All COL2A1 mutations known to cause Stickler syndrome result in the formation of a premature termination codon within the ty

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::807fc432ddf656e5d10d52337364b54b
https://pubmed.ncbi.nlm.nih.gov/10982970

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Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis

Autor: J, Körkkö, D H, Cohn, L, Ala-Kokko, D, Krakow, D J, Prockop

Publikováno v: American journal of medical genetics. 92(2)

The COL2A1 gene was assayed for mutations in genomic DNA from 12 patients with achondrogenesis type II/hypochondrogenesis. The exons and flanking sequences of the 54 exons in the COL2A1 gene were amplified by a series of specific primers using PCR. T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::be70911a0c3529fdcf4ce09a034975b0
https://pubmed.ncbi.nlm.nih.gov/10797431

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Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II

Autor: S G, Brodie, R S, Lachman, B F, Crandall, M A, Fox, D L, Rimoin, D H, Cohn, W R, Wilcox

Publikováno v: American journal of medical genetics. 80(3)

The mesomelic chondrodysplasias are a heterogeneous group of dwarfing disorders characterized by shortness of the middle segments of limbs. We report on a 25-week fetus with disproportionate shortness of limbs with an apparently distinct form of meso

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ca0e4e6f04bec683aa39bb875e110b5a
https://pubmed.ncbi.nlm.nih.gov/9843047

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