Presentation is loading. Please wait.

Presentation is loading. Please wait.

Satoshi Suzuki, Mary L. Marazita, Margaret E

Publishพัชรพร รักไทย Modified over 5 years ago

Similar presentations

Presentation on theme: "Satoshi Suzuki, Mary L. Marazita, Margaret E"— Presentation transcript:

1 Mutations in BMP4 Are Associated with Subepithelial, Microform, and Overt Cleft Lip 
Satoshi Suzuki, Mary L. Marazita, Margaret E. Cooper, Nobutomo Miwa, Anne Hing, Astanand Jugessur, Nagato Natsume, Kazuo Shimozato, Naofumi Ohbayashi, Yasushi Suzuki, Teruyuki Niimi, Katsuhiro Minami, Masahiko Yamamoto, Tserendorj J. Altannamar, Tudevdorj Erkhembaatar, Hiroo Furukawa, Sandra Daack-Hirsch, Jamie L'Heureux, Carla A. Brandon, Seth M. Weinberg, Katherine Neiswanger, Frederic W.B. Deleyiannis, Javier E. de Salamanca, Alexandre R. Vieira, Andrew C. Lidral, James F. Martin, Jeffrey C. Murray  The American Journal of Human Genetics  Volume 84, Issue 3, Pages (March 2009) DOI: /j.ajhg Copyright © 2009 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Subepithelial and Microform Defects
Ultrasound Images of the Proband S91C, Who Has an Orbicularis Oris Muscle Defect, and Her Husband Ultrasound images are taken in the transverse plane; the top of the image corresponds to anterior structures; OOM = orbicularis oris muscle; AR = alveolar ridge. The arrowhead in (A) points to the discontinuity in the OOM of the proband (A). In contrast, note the continuous appearance of the husband's OOM (B). (C) A child (A346V) has left microform CLP. (D) His father (A346V) has subtle right microform cleft lip and a “heart-shaped” bifid uvula. See Table S1 for a summary of the cases and controls sequenced for BMP4. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Comparative Amino Acid Sequence Alignment of Vertebrate BMP4 and Mutations of BMP4 in Humans The top row shows a schematic diagram of the human BMP4 gene with the positions of exons and their translated protein domains. Both exon 3 and exon 4 are in the translated region. Filled green is the TGF beta propeptide domain and violet is the TGF beta domain. Gray background in the alignment indicates regions of complete amino acid identity across species. Comparative amino acid alignment follows the order of Homo sapiens (Human [NP_001193]), Pan troglodytes (Chimpanzee [XP_509954]), Bos taurus (Cow [NP_ ]), Rattus norvegicus (Rat [NP_036959]), Canis familiaris (Dog [XP_851628]), Gallus gallus (Chicken [NP_990568]), Xenopus tropicalis (Frog [NP_ ]), and Danio rerio (Zebrafish [NP_571417]). C is Cleft lip and palate; oo is orbicularis oris defect; M is Microform cleft. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Download ppt "Satoshi Suzuki, Mary L. Marazita, Margaret E"

Similar presentations

Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants Martin F. Arlt, Jennifer G.

Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants Martin F. Arlt, Jennifer G.
Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.

Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.
Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.
Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages 232-237 (January.

Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.
Identification of novel missense mutations of the TGFBR3 gene in Chinese women with premature ovarian failure  Chun-rong Qin, Shi-ling Chen, Ji-long Yao,

Identification of novel missense mutations of the TGFBR3 gene in Chinese women with premature ovarian failure  Chun-rong Qin, Shi-ling Chen, Ji-long Yao,
Protein-Truncation Mutations in the RP2 Gene in a North American Cohort of Families with X-Linked Retinitis Pigmentosa  Alan J. Mears, Linn Gieser, Denise.

Protein-Truncation Mutations in the RP2 Gene in a North American Cohort of Families with X-Linked Retinitis Pigmentosa  Alan J. Mears, Linn Gieser, Denise.
Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal- Recessive Nonsyndromic Hearing Impairment  Margit Schraders, Kwanghyuk Lee, Jaap.

Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal- Recessive Nonsyndromic Hearing Impairment  Margit Schraders, Kwanghyuk Lee, Jaap.
Volume 141, Issue 6, Pages (December 2011)

Volume 141, Issue 6, Pages (December 2011)
Wanlong Ma, Hagop Kantarjian, Xi Zhang, Chen-Hsiung Yeh, Zhong J

Wanlong Ma, Hagop Kantarjian, Xi Zhang, Chen-Hsiung Yeh, Zhong J
Part I: Tips and Techniques from curators

Part I: Tips and Techniques from curators
Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta  Pablo Lapunzina, Mona Aglan, Samia Temtamy, José.

Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta  Pablo Lapunzina, Mona Aglan, Samia Temtamy, José.
Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4  Nadege Bondurand, Florence Dastot-Le Moal, Laure Stanchina, Nathalie Collot,

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4  Nadege Bondurand, Florence Dastot-Le Moal, Laure Stanchina, Nathalie Collot,
Analysis of the COL1A1 and COL1A2 Genes by PCR Amplification and Scanning by Conformation-Sensitive Gel Electrophoresis Identifies Only COL1A1 Mutations.

Analysis of the COL1A1 and COL1A2 Genes by PCR Amplification and Scanning by Conformation-Sensitive Gel Electrophoresis Identifies Only COL1A1 Mutations.
Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A  Krista Mahoney, Susan J. Moore, David Buckley, Muhammed Alam, Patrick Parfrey,

Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A  Krista Mahoney, Susan J. Moore, David Buckley, Muhammed Alam, Patrick Parfrey,
Mutation Altering the miR-184 Seed Region Causes Familial Keratoconus with Cataract  Anne E. Hughes, Declan T. Bradley, Malcolm Campbell, Judith Lechner,

Mutation Altering the miR-184 Seed Region Causes Familial Keratoconus with Cataract  Anne E. Hughes, Declan T. Bradley, Malcolm Campbell, Judith Lechner,
Familial Deafness, Congenital Heart Defects, and Posterior Embryotoxon Caused by Cysteine Substitution in the First Epidermal-Growth-Factor–Like Domain.

Familial Deafness, Congenital Heart Defects, and Posterior Embryotoxon Caused by Cysteine Substitution in the First Epidermal-Growth-Factor–Like Domain.
Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate- Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome 

Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate- Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome 
Eija Siintola, Meral Topcu, Nina Aula, Hannes Lohi, Berge A

Eija Siintola, Meral Topcu, Nina Aula, Hannes Lohi, Berge A
Meta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35  Mary L. Marazita, Jeffrey C. Murray, Andrew.

Meta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35  Mary L. Marazita, Jeffrey C. Murray, Andrew.

Similar presentations

Ads by Google