Presentation is loading. Please wait.

Presentation is loading. Please wait.

Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia Maaret Ridanpää, Hans van Eenennaam, Katarina.

Published byDaniella Whitenton Modified over 9 years ago

Similar presentations

Presentation on theme: "Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia Maaret Ridanpää, Hans van Eenennaam, Katarina."— Presentation transcript:

1 Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia Maaret Ridanpää, Hans van Eenennaam, Katarina Pelin, Robert Chadwick, Cheryl Johnson, Bo Yuan, Walther vanVenrooij, Ger Pruijn, Riika Salmela, Susanna Rockas, Outi Mäkitie, Ilkka Kaitila, Albert de la Chapelle Cell Volume 104, Issue 2, Pages 195-203 (January 2001) DOI: 10.1016/S0092-8674(01)00205-7

2 Figure 1 Cell 2001 104, 195-203DOI: (10.1016/S0092-8674(01)00205-7)

3 Figure 2 Cell 2001 104, 195-203DOI: (10.1016/S0092-8674(01)00205-7)

4 Figure 3 Cell 2001 104, 195-203DOI: (10.1016/S0092-8674(01)00205-7)

5 Figure 4 Cell 2001 104, 195-203DOI: (10.1016/S0092-8674(01)00205-7)

Download ppt "Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia Maaret Ridanpää, Hans van Eenennaam, Katarina."

Similar presentations

Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts Anne Polvi,

Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts Anne Polvi,
In Situ Bipolar Electroporation for Localized Cell Loading with Reporter Dyes and Investigating Gap Junctional Coupling Elke De Vuyst, Marijke De Bock,

In Situ Bipolar Electroporation for Localized Cell Loading with Reporter Dyes and Investigating Gap Junctional Coupling Elke De Vuyst, Marijke De Bock,
A Central Role for P48/45 in Malaria Parasite Male Gamete Fertility Melissa R. van Dijk, Chris J. Janse, Joanne Thompson, Andrew P. Waters, Joanna A.M.

A Central Role for P48/45 in Malaria Parasite Male Gamete Fertility Melissa R. van Dijk, Chris J. Janse, Joanne Thompson, Andrew P. Waters, Joanna A.M.
SOD1 Integrates Signals from Oxygen and Glucose to Repress Respiration Amit R. Reddi, Valeria C. Culotta Cell Volume 152, Issue 1, Pages 224-235 (January.

SOD1 Integrates Signals from Oxygen and Glucose to Repress Respiration Amit R. Reddi, Valeria C. Culotta Cell Volume 152, Issue 1, Pages (January.
Two Distinct Forms of Long-Term Depression Coexist in CA1 Hippocampal Pyramidal Cells Stéphane H.R Oliet, Robert C Malenka, Roger A Nicoll Neuron Volume.

Two Distinct Forms of Long-Term Depression Coexist in CA1 Hippocampal Pyramidal Cells Stéphane H.R Oliet, Robert C Malenka, Roger A Nicoll Neuron Volume.
A Role for Dystroglycan in Basement Membrane Assembly Michael D Henry, Kevin P Campbell Cell Volume 95, Issue 6, Pages 859-870 (December 1998) DOI: 10.1016/S0092-8674(00)81708-0.

A Role for Dystroglycan in Basement Membrane Assembly Michael D Henry, Kevin P Campbell Cell Volume 95, Issue 6, Pages (December 1998) DOI: /S (00)
Lessons from Hereditary Colorectal Cancer

Lessons from Hereditary Colorectal Cancer
What We Talk About When We Talk About Fat Evan D. Rosen, Bruce M. Spiegelman Cell Volume 156, Issue 1, Pages 20-44 (January 2014) DOI: 10.1016/j.cell.2013.12.012.

What We Talk About When We Talk About Fat Evan D. Rosen, Bruce M. Spiegelman Cell Volume 156, Issue 1, Pages (January 2014) DOI: /j.cell
Molecular Biology of the Cell

Molecular Biology of the Cell
Genome-wide Single-Cell Analysis of Recombination Activity and De Novo Mutation Rates in Human Sperm Jianbin Wang, H. Christina Fan, Barry Behr, Stephen.

Genome-wide Single-Cell Analysis of Recombination Activity and De Novo Mutation Rates in Human Sperm Jianbin Wang, H. Christina Fan, Barry Behr, Stephen.
Consecutive Positive Feedback Loops Create a Bistable Switch that Controls Preadipocyte-to-Adipocyte Conversion Byung Ouk Park, Robert Ahrends, Mary N.

Consecutive Positive Feedback Loops Create a Bistable Switch that Controls Preadipocyte-to-Adipocyte Conversion Byung Ouk Park, Robert Ahrends, Mary N.
Eph-Ephrin Bidirectional Signaling in Physiology and Disease Elena B. Pasquale Cell Volume 133, Issue 1, Pages 38-52 (April 2008) DOI: 10.1016/j.cell.2008.03.011.

Eph-Ephrin Bidirectional Signaling in Physiology and Disease Elena B. Pasquale Cell Volume 133, Issue 1, Pages (April 2008) DOI: /j.cell
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.
VEGF and the Fab fragment of a humanized neutralizing antibody: crystal structure of the complex at 2.4 å resolution and mutational analysis of the interface.

VEGF and the Fab fragment of a humanized neutralizing antibody: crystal structure of the complex at 2.4 å resolution and mutational analysis of the interface.
Binding of Secretory Precursor Polypeptides to a Translocon Subcomplex Is Regulated by BiP Susan K Lyman, Randy Schekman Cell Volume 88, Issue 1, Pages.

Binding of Secretory Precursor Polypeptides to a Translocon Subcomplex Is Regulated by BiP Susan K Lyman, Randy Schekman Cell Volume 88, Issue 1, Pages.
Healthy clocks, healthy body, healthy mind Akhilesh B. Reddy, John S. O’Neill Trends in Cell Biology Volume 20, Issue 1, Pages 36-44 (January 2010) DOI:

Healthy clocks, healthy body, healthy mind Akhilesh B. Reddy, John S. O’Neill Trends in Cell Biology Volume 20, Issue 1, Pages (January 2010) DOI:
A View to a Kill: The Bacterial Type VI Secretion System Brian T. Ho, Tao G. Dong, John J. Mekalanos Cell Host & Microbe Volume 15, Issue 1, Pages 9-21.

A View to a Kill: The Bacterial Type VI Secretion System Brian T. Ho, Tao G. Dong, John J. Mekalanos Cell Host & Microbe Volume 15, Issue 1, Pages 9-21.
14-3-3 Proteins Are Essential for RAS/MAPK Cascade Signaling during Pseudohyphal Development in S. cerevisiae Radclyffe L Roberts, Hans-Ulrich Mösch, Gerald.

Proteins Are Essential for RAS/MAPK Cascade Signaling during Pseudohyphal Development in S. cerevisiae Radclyffe L Roberts, Hans-Ulrich Mösch, Gerald.

Similar presentations

Ads by Google