Kenneth H Kraemer
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Explore the profile of Kenneth H Kraemer including associated specialties, affiliations and a list of published articles.
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88
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2027
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Recent Articles
1.
Moralli D, Smith A, Garlick J, Kraemer K, Monaco Z
Biochem Biophys Rep
. 2024 Dec;
40:101875.
PMID: 39639961
Gene therapy for xeroderma pigmentosum (XP), a rare, recessive DNA repair disease, has been considered since defects in XP genes result in severe and debilitating symptoms. Mutations in the DNA...
2.
Sagun J, Khan S, Imoto K, Tamura D, Oh K, DiGiovanna J, et al.
PLoS Genet
. 2024 Dec;
20(12):e1011265.
PMID: 39621777
Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by pathogenic variants in seven nucleotide excision repair genes (XPA to XPG) and POLH involved in translesion synthesis. XP patients...
3.
4.
Fernandez E, Tamura D, Khan S, Momen S, Fassihi H, Sarkany R, et al.
Front Oncol
. 2023 Nov;
13:1282823.
PMID: 37954081
Background: Xeroderma pigmentosum (XP), a rare disease with defects in DNA repair genes, has >1,000-fold increased risk of ultraviolet-induced skin cancers. Immune checkpoint inhibitors (ICIs) are used for treating cancers...
5.
DiGiovanna J, Randall G, Edelman A, Allawh R, Xiong M, Tamura D, et al.
Am J Med Genet A
. 2022 Sep;
188(12):3448-3462.
PMID: 36103153
Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder of DNA repair and transcription with developmental delay and abnormalities in brain, eye, skin, nervous, and musculoskeletal systems. We followed a...
6.
Ioannidis A, Khan S, Tamura D, DiGiovanna J, Rizza E, Kraemer K, et al.
Exp Dermatol
. 2022 May;
31(8):1270-1275.
PMID: 35615778
Hair shafts from three trichothiodystrophy (TTD) patients with mutations in the ERCC2 (XPD) gene were examined by transmission electron microscopy. TTD is a rare, recessive disorder with mutations in several...
7.
DiGiovanna J, Kraemer K
Br J Dermatol
. 2022 Mar;
186(4):607-608.
PMID: 35355250
No abstract available.
8.
Lehky T, Sackstein P, Tamura D, Quezado M, Wu T, Khan S, et al.
BMC Neurol
. 2021 Oct;
21(1):393.
PMID: 34627174
Background: Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder with defective DNA nucleotide excision repair and associated with a high frequency of skin cancer. Approximately 25% of patients...
9.
Oska S, Tamura D, Blau J, Khan S, Kraemer K, DiGiovanna J
Pediatr Dermatol
. 2021 Jun;
38(4):913-918.
PMID: 34105807
The availability of genomic sequencing for inherited diseases provides a more complete molecular basis for how an individual's genetic landscape influences clinical outcome. We describe a family where exome sequencing...
10.
Rizza E, DiGiovanna J, Khan S, Tamura D, Jeskey J, Kraemer K
J Invest Dermatol
. 2021 Jan;
141(4S):976-984.
PMID: 33436302
Aging results from intrinsic changes (chronologic) and damage from external exposures (extrinsic) on the human body. The skin is ideal to visually differentiate their unique features. Inherited diseases of DNA...