C. T. Baldwin

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.

Ala-Kokko, L, Baldwin, C T, Moskowitz, R W, Prockop, D J

A cosmid clone was isolated that contained an allele for the type II procollagen gene previously shown to be coinherited with primary generalized osteoarthritis in a large family. Affected members of...

Structure of cDNA clones coding for human type II procollagen. The alpha 1(II) chain is more similar to the alpha 1(I) chain than two other alpha chains of fibrillar collagens.

Baldwin, C T, Reginato, A M, Smith, C, Jimenez, S A, Prockop, D J

Overlapping cDNA clones were isolated for human type II procollagen. Nucleotide sequencing of the clones provided over 2.5 kb of new coding sequences for the human pro alpha 1(II) gene and the first...

Undifferentiated F9 embryonal carcinoma cells produce a short-chain collagen molecule.

Smith, B D, Baldwin, C T

The undifferentiated F9 embryonal carcinoma cells produce a unique collagen that decreases in amount during retinoic acid-induced differentiation of F9 cells into basement-membrane parietal endoderm....

Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences.

Ala-Kokko, L, Kontusaari, S, Baldwin, C T, Kuivaniemi, H, Prockop, D J

Two overlapping cDNA clones that cover the complete length of the mRNA for human type III procollagen were characterized. The data provided about 2500 base pairs of sequence not previously defined...

Structure of a full-length cDNA clone for the prepro alpha 1(I) chain of human type I procollagen.

Tromp, G, Kuivaniemi, H, Stacey, A, Shikata, H, Baldwin, C T, Jaenisch, R, ...

A full-length cDNA clone for the human prepro alpha 1(I) chain of type I procollagen was characterized. Nucleotide sequencing of the first 1500 nucleotide residues of the 5'-end of the cDNA clone...

Autosomal dominant orthostatic hypotensive disorder maps to chromosome 18q.

DeStefano, A L, Baldwin, C T, Burzstyn, M, Gavras, I, Handy, D E, Joost, O, ...

Familial orthostatic hypotensive disorder is characterized by light-headedness on standing, which may worsen to syncope, palpitations, and blue-purple ankle discoloration, and is accompanied by a...

Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).

Hoth, C F, Milunsky, A, Lipsky, N, Sheffer, R, Clarren, S K, Baldwin, C T

Waardenburg syndrome type I (WS-I) is an autosomal dominant disorder characterized by sensorineural hearing loss, dystopia canthorum, pigmentary disturbances, and other developmental defects....

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.

Ala-Kokko, L, Baldwin, C T, Moskowitz, R W, Prockop, D J

A cosmid clone was isolated that contained an allele for the type II procollagen gene previously shown to be coinherited with primary generalized osteoarthritis in a large family. Affected members of...

Structure of cDNA clones coding for human type II procollagen. The alpha 1(II) chain is more similar to the alpha 1(I) chain than two other alpha chains of fibrillar collagens.

Baldwin, C T, Reginato, A M, Smith, C, Jimenez, S A, Prockop, D J

Overlapping cDNA clones were isolated for human type II procollagen. Nucleotide sequencing of the clones provided over 2.5 kb of new coding sequences for the human pro alpha 1(II) gene and the first...

Undifferentiated F9 embryonal carcinoma cells produce a short-chain collagen molecule.

Smith, B D, Baldwin, C T

The undifferentiated F9 embryonal carcinoma cells produce a unique collagen that decreases in amount during retinoic acid-induced differentiation of F9 cells into basement-membrane parietal endoderm....

Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences.

Ala-Kokko, L, Kontusaari, S, Baldwin, C T, Kuivaniemi, H, Prockop, D J

Two overlapping cDNA clones that cover the complete length of the mRNA for human type III procollagen were characterized. The data provided about 2500 base pairs of sequence not previously defined...

Structure of a full-length cDNA clone for the prepro alpha 1(I) chain of human type I procollagen.

Tromp, G, Kuivaniemi, H, Stacey, A, Shikata, H, Baldwin, C T, Jaenisch, R, ...

A full-length cDNA clone for the human prepro alpha 1(I) chain of type I procollagen was characterized. Nucleotide sequencing of the first 1500 nucleotide residues of the 5'-end of the cDNA clone...

Autosomal dominant orthostatic hypotensive disorder maps to chromosome 18q.

DeStefano, A L, Baldwin, C T, Burzstyn, M, Gavras, I, Handy, D E, Joost, O, ...

Familial orthostatic hypotensive disorder is characterized by light-headedness on standing, which may worsen to syncope, palpitations, and blue-purple ankle discoloration, and is accompanied by a...

Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).

Hoth, C F, Milunsky, A, Lipsky, N, Sheffer, R, Clarren, S K, Baldwin, C T

Waardenburg syndrome type I (WS-I) is an autosomal dominant disorder characterized by sensorineural hearing loss, dystopia canthorum, pigmentary disturbances, and other developmental defects....

Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q.

Baldwin, C T, Farrer, L A, Adair, R, Dharmavaram, R, Jimenez, S, Anderson, L

Calcium pyrophosphate-deposition disease (CPDD), also called "chondrocalcinosis" or "pseudogout," is a disorder characterized by the deposition of calcium-containing crystals in joint tissue, which...

Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.

Bonné-Tamir, B., DeStefano, A. L., Briggs, C. E., Adair, R., Franklyn, B., Weiss, S., ...

Deafness is a heterogeneous trait affecting approximately 1/1,000 newborns. Genetic linkage studies have already implicated more than a dozen distinct loci causing deafness. We conducted a genome...

Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.

Van Camp, G, Van Thienen, M N, Handig, I, Van Roy, B, Rao, V S, Milunsky, A, ...

Waardenburg syndrome (WS) is an autosomal dominant disorder characterised by pigmentary abnormalities and sensorineural deafness. It is subcategorised into type 1 (WS1) and type 2 (WS2) on the basis...