Johanna M. Rommens

Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses (2009)

Ball, Heather L., Zhang, Bing, Riches, J. Jacob, Gandhi, Rikesh, Li, Jing, Rommens, Johanna M., ...

Shwachman-Diamond syndrome (SDS; OMIM 260400 ) results from loss-of-function mutations in the Shwachman-Bodian Diamond syndrome (SBDS) gene. It is a multi-system disorder with clinical features of...

A systematic analysis of intronic sequences downstream of 5' splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation (2008)

Aznarez, Isabel, Barash, Yoseph, Shai, Ofer, He, David, Zielenski, Julian, Tsui, Lap-Chee, ...

To identify human intronic sequences associated with 5′ splice site recognition, we performed a systematic search for motifs enriched in introns downstream of both constitutive and alternative...

Translocation breakpoint maps 5 kb 3 ′ from TWIST in a patient affected with Saethre–Chotzen syndrome (1997)

Inge Krebs, Isabel Weis, Melanie Hudler, Johanna M. Rommens, Helmut Roth, Steven W. Scherer, ...

Saethre–Chotzen syndrome, a common autosomal dominant craniosynostosis in humans, is characterized by brachydactyly, soft tissue syndactyly and facial dysmorphism including ptosis, facial...

ARTICLE (1996)

Michael A. Crackower, Stephen W. Scherer, Johanna M. Rommens, Chi-chung Hui, Parvoneh Poorkaj, Sylvia Soder, ...

Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3–q22.1 and analysis of a candidate gene for its expression during limb development

Differential 3' polyadenylation of the Huntington disease gene results in two mRNA species with variable tissue expression (1993)

Lin, Blaoyang, Rommens, Johanna M., Graham, Rona K., Kalchman, Michael, MacDonald, Helen, Nasir, Jamal, ...

Recently a novel gene containing a CAG trinucleotide repeat that is expanded on HD chromosomes has been identified(1). This gene was shown to detect a single transcript of 10–11 kb by RNA...

Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 +1G->T and 711 +1G->T mutations (1993)

Zielenski, Julian, Bozon, Dominique, Markiewicz, Danuta, Aubin, Gervais, Simard, Fernand, Rommens, Johanna M., ...

We have analyzed the CFTR mRNA populations in a cystic fibrosis patient heterozygous for the 621 +1G→T and 711+1G→T mutations. Total RNA isolated from the nasal epithelial cells and...

Refined localization and yeast artificial chromosome (YAC) contig--mapping of genes and DNA segments in the 7q21-q32 region (1993)

Scherer, Stephen W., Rommens, Johanna M., Soder, Sylvia, Wong, Ed, Plavsic, Natasa, Tompkins, Brock J.F., ...

The chromosome localizations for 159 gene and DNA segments have been refined to one of five intervals in the 7q21–q32 region through hybridization analysis with a panel of somatic cell hybrid...

An Alu element retroposition in two families with Huntington disease defines a new active Alu subfamily (1993)

Hutchinson, Gordon B., Andrew, Susan E., McDonald, Helen, Goldberg, Y.Paul, Graham, Rona, Rommens, Johanna M., ...

Alu repetitive elements represent the most common short interspersed elements (SINEs) found in primates, with an estimated 500,000 members in the haploid human genome. Considerable evidence has...

Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer (1990)

Drumm, Mitchell L., Pope, Heidi A., Cliff, William H., Rommens, Johanna M., Marvin, Sheila A., Tsui, Lap-Chee, ...

We have used retrovirus-mediated gene transfer to demonstrate complementation of the cystic fibrosis (CF) defect in vitro. Amphotropic retroviruses were used to transduce a functional cystic fibrosis...

DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis (1989)

Rosenbloom, Craig L., Kerem, Bat-Sheva, Rommens, Johanna M., Tsui, Lap-Chee, Wainwright, Brandon, Williamson, Robert, ...

Positional cloning of ZNF217 and NABC1: Genes amplified at 20q13.2 and overexpressed in breast carcinoma

Collins, Colin, Rommens, Johanna M., Kowbel, David, Godfrey, Tony, Tanner, Minna, Hwang, Soo-in, ...

We report here the molecular cloning of an ≈1-Mb region of recurrent amplification at 20q13.2 in breast cancer and other tumors and the delineation of a 260-kb common region of amplification....

Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7

Goobie, Sharan, Popovic, Maja, Morrison, Jodi, Ellis, Lynda, Ginzberg, Hedy, Boocock, Graeme R. B., ...

Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by exocrine pancreatic insufficiency and hematologic and skeletal abnormalities. A genomewide scan of families with...

Positional cloning of ZNF217 and NABC1: Genes amplified at 20q13.2 and overexpressed in breast carcinoma

Collins, Colin, Rommens, Johanna M., Kowbel, David, Godfrey, Tony, Tanner, Minna, Hwang, Soo-in, ...

We report here the molecular cloning of an ≈1-Mb region of recurrent amplification at 20q13.2 in breast cancer and other tumors and the delineation of a 260-kb common region of amplification....

Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7

Goobie, Sharan, Popovic, Maja, Morrison, Jodi, Ellis, Lynda, Ginzberg, Hedy, Boocock, Graeme R. B., ...

Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by exocrine pancreatic insufficiency and hematologic and skeletal abnormalities. A genomewide scan of families with...

Identification and regional localization of DNA markers on chromosome 7 for the cloning of the cystic fibrosis gene

Rommens, Johanna M., Zengerling, Stefanie, Burns, Julie, Melmer, Georg, Kerem, Bat-sheva, Plavsic, Natasa, ...

To facilitate mapping of the cystic fibrosis locus (CF) and to isolate the corresponding gene, we have screened a flow-sorted chromosome 7–specific library for additional DNA markers in the...

Loss of the Mouse Ortholog of the Shwachman-Diamond Syndrome Gene (Sbds) Results in Early Embryonic Lethality†

Zhang, Siyi, Shi, Mingjun, Hui, Chi-chung, Rommens, Johanna M.

Mutations in SBDS are responsible for Shwachman-Diamond syndrome (SDS), a disorder with clinical features of exocrine pancreatic insufficiency, bone marrow failure, and skeletal abnormalities. SBDS...

Permeability of Wild-Type and Mutant Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channels to Polyatomic Anions

Linsdell, Paul, Tabcharani, Joseph A., Rommens, Johanna M., Hou, Yue-Xian, Chang, Xiu-Bao, Tsui, Lap-Chee, ...

Permeability of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel to polyatomic anions of known dimensions was studied in stably transfected Chinese hamster ovary cells...

Determinants of the Nuclear Localization of the Heterodimeric DNA Fragmentation Factor (Icad/Cad)

Lechardeur, Delphine, Drzymala, Luke, Sharma, Manu, Zylka, Danuta, Kinach, Robert, Pacia, Joanna, ...

Programmed cell death or apoptosis leads to the activation of the caspase-activated DNase (CAD), which degrades chromosomal DNA into nucleosomal fragments. Biochemical studies revealed that CAD forms...

A systematic analysis of intronic sequences downstream of 5′ splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation

Aznarez, Isabel, Barash, Yoseph, Shai, Ofer, He, David, Zielenski, Julian, Tsui, Lap-Chee, ...

To identify human intronic sequences associated with 5′ splice site recognition, we performed a systematic search for motifs enriched in introns downstream of both constitutive and alternative...

Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes

Diamandis, Maria, Paterson, Andrew D., Rommens, Johanna M., Veljkovic, D. Kika, Blavignac, Jessica, Bulman, Dennis E., ...

Quebec platelet disorder (QPD) is an autosomal dominant disorder with high penetrance that is associated with increased risks for bleeding. The hallmark of QPD is a gain-of-function defect in...