國立虎尾科技大學 |

TGFBI-related corneal dystrophies = clinical findings, cell biology, and genetics /

紀錄類型:	書目-語言資料,印刷品 : Monograph/item
正題名/作者:	TGFBI-related corneal dystrophies/ edited by Eung Kweon Kim, R. Doyle Stulting.
其他題名:	clinical findings, cell biology, and genetics /
其他作者:	Kim, Eung Kweon.
出版者:	Singapore :Springer Nature Singapore : : 2024.,
面頁冊數:	ix, 128 p. :ill., digital ; : 24 cm.;
Contained By:	Springer Nature eBook
標題:	Cornea - Diseases. -
電子資源:	https://doi.org/10.1007/978-981-96-0131-8
ISBN:	9789819601318

TGFBI-related corneal dystrophies = clinical findings, cell biology, and genetics /
TGFBI-related corneal dystrophiesclinical findings, cell biology, and genetics /[electronic resource] :edited by Eung Kweon Kim, R. Doyle Stulting. - Singapore :Springer Nature Singapore :2024. - ix, 128 p. :ill., digital ;24 cm.

1. Introduction -- 2. What is TGFBIp and what is its function? -- a.What are TGFBI corneal dystrophies -- I. History of TGFBI corneal dystrophies in Europe -- 3. Classification and mutations of TGFBI Corneal Dystrophies -- a. Dystrophies with deposits primarily in Bowman layer -- I. Reis-Bücklers corneal dystrophy (RBCD) -- II. Thiel-Behnke corneal dystrophy (TBCD) -- b. Dystrophies with deposits primarily in the stroma -- I. Lattice corneal dystrophy with TGFBI mutation -- II. Classic lattice corneal dystrophy (Lattice corneal dystrophy type 1; LCD1) -- III. Variants of lattice corneal dystrophy (III, IIIA, I/IIIA, and IV) -- c. Granular corneal dystrophy -- I. Granular corneal dystrophy type 1 (GCD1) -- II. Granular corneal dystrophy type 2 (GCD2, Avellino CD, Combined granular lattice CD) -- 4. Molecular pathogenesis of GCD2 and TGFBI corneal dystrophies -- 5. Proteolysis of TGFBIp -- 6. Genetics and gene therapy on the TGFBI corneal dystrophies.

This book provides up-to-date information about the basic cell biology, protein processing mechanisms, genetics, and treatment strategies for TGFBI-related corneal dystrophies. Extensive illustrations document the clinical appearance of these dystrophies, and details of their cell biology provide our current understanding of intracellular pathologic mechanisms related to the mutated TGFBI protein. Descriptions of metabolic pathways involving TGFBI protein include recent information about the intracellular processing of normal and mutated TGFBI proteins. Detailed descriptions of the pathologic basis for TGFBI-related corneal dystrophies and possible strategies for human gene therapy are provided. This book offers a rich source of information about the pathogenesis, diagnosis, and treatment options for practicing ophthalmologists, specialists, and trainees.

ISBN: 9789819601318

Standard No.: 10.1007/978-981-96-0131-8doiSubjects--Topical Terms:

882710
Cornea
--Diseases.

LC Class. No.: RE336

Dewey Class. No.: 617.719

TGFBI-related corneal dystrophies = clinical findings, cell biology, and genetics /
LDR:02841nam a2200325 a 4500 001 1153367
003 DE-He213
005 20250220115620.0
006 m d
007 cr nn 008maaau
008 250619s2024 si s 0 eng d
020 $a 9789819601318 $q (electronic bk.)
020 $a 9789819601301 $q (paper)
024 7 $a 10.1007/978-981-96-0131-8 $2 doi
035 $a 978-981-96-0131-8
040 $a GP $c GP
041 0 $a eng
050 4 $a RE336
072 7 $a MJQ $2 bicssc
072 7 $a MED063000 $2 bisacsh
072 7 $a MJQ $2 thema
082 0 4 $a 617.719 $2 23
090 $a RE336 $b .T356 2024
245 0 0 $a TGFBI-related corneal dystrophies $h [electronic resource] : $b clinical findings, cell biology, and genetics / $c edited by Eung Kweon Kim, R. Doyle Stulting.
260 $a Singapore : $c 2024. $b Springer Nature Singapore : $b Imprint: Springer,
300 $a ix, 128 p. : $b ill., digital ; $c 24 cm.
505 0 $a 1. Introduction -- 2. What is TGFBIp and what is its function? -- a.What are TGFBI corneal dystrophies -- I. History of TGFBI corneal dystrophies in Europe -- 3. Classification and mutations of TGFBI Corneal Dystrophies -- a. Dystrophies with deposits primarily in Bowman layer -- I. Reis-Bücklers corneal dystrophy (RBCD) -- II. Thiel-Behnke corneal dystrophy (TBCD) -- b. Dystrophies with deposits primarily in the stroma -- I. Lattice corneal dystrophy with TGFBI mutation -- II. Classic lattice corneal dystrophy (Lattice corneal dystrophy type 1; LCD1) -- III. Variants of lattice corneal dystrophy (III, IIIA, I/IIIA, and IV) -- c. Granular corneal dystrophy -- I. Granular corneal dystrophy type 1 (GCD1) -- II. Granular corneal dystrophy type 2 (GCD2, Avellino CD, Combined granular lattice CD) -- 4. Molecular pathogenesis of GCD2 and TGFBI corneal dystrophies -- 5. Proteolysis of TGFBIp -- 6. Genetics and gene therapy on the TGFBI corneal dystrophies.
520 $a This book provides up-to-date information about the basic cell biology, protein processing mechanisms, genetics, and treatment strategies for TGFBI-related corneal dystrophies. Extensive illustrations document the clinical appearance of these dystrophies, and details of their cell biology provide our current understanding of intracellular pathologic mechanisms related to the mutated TGFBI protein. Descriptions of metabolic pathways involving TGFBI protein include recent information about the intracellular processing of normal and mutated TGFBI proteins. Detailed descriptions of the pathologic basis for TGFBI-related corneal dystrophies and possible strategies for human gene therapy are provided. This book offers a rich source of information about the pathogenesis, diagnosis, and treatment options for practicing ophthalmologists, specialists, and trainees.
650 0 $a Cornea $x Diseases. $3 882710
650 0 $a Cornea $x Physiology. $3 1480703
650 0 $a Transforming growth factors-beta. $3 792387
650 1 4 $a Ophthalmology. $3 644487
650 2 4 $a Genetics. $3 578972
700 1 $a Kim, Eung Kweon. $e editor. $3 1480701
700 1 $a Stulting, Doyle. $3 1480702
710 2 $a SpringerLink (Online service) $3 593884
773 0 $t Springer Nature eBook
856 4 0 $u https://doi.org/10.1007/978-981-96-0131-8
950 $a Medicine (SpringerNature-11650)