(Q28290632)

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A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome

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A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome (English)

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Stanislav Miertuš

7

object named as

Stanislav Miertus

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author name string

Jan Miertus

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Wiktor Borozdin

2

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Vladimir Frecer

3

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Giorgio Tonini

4

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Sara Bertok

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Antonio Amoroso

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Jürgen Kohlhase

8

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language of work or name

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publication date

March 2006

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119

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1-2

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154-61

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Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt

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https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exon discovery by genomic sequence alignment

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disruption of a putative Cys-zinc interaction eliminates the biological activity of the Krüppel finger protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case report

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA binding capacity of the WT1 protein is abolished by Denys—Drash syndrome WT1 point mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SALL1 mutations in Townes-Brocks syndrome and related disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Medaka spalt acts as a target gene of hedgehog signaling.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

csal1 is controlled by a combination of FGF and Wnt signals in developing limb buds.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cocrystal structure of YY1 bound to the adeno-associated virus P5 initiator

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Design, synthesis and structure of a zinc finger with an artificial beta-turn

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SALL3, a new member of the human spalt-like gene family, maps to 18q23.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structures of zinc finger domains from transcription factor Sp1. Insights into sequence-specific protein-DNA recognition

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rearrangement of side-chains in a Zif268 mutant highlights the complexities of zinc finger-DNA recognition

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

spalt encodes an evolutionarily conserved zinc finger protein of novel structure which provides homeotic gene function in the head and tail region of the Drosophila embryo

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Okihiro syndrome is caused by SALL4 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1007/S00439-005-0124-7

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